Undiagnosed Diseases Network (UDN)
Undiagnosed Diseases Network (UDN)
Program Publications
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The search results on this publication page are automated on a monthly schedule based on acknowledgement of NIH Common Fund award numbers and intramural awards. Therefore, this list is not an exhaustive or error-free account of the program’s publications.
| Title | Author | Journal Name | PubMedID | Journal Abbreviation | Publication Date |
|---|---|---|---|---|---|
| Macrocephaly and developmental delay caused by missense variants in RAB5C. | Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, Undiagnosed Diseases Network, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P | Human molecular genetics | 37552066 | Hum Mol Genet | 2023 Oct 17 |
| Improved detection of aberrant splicing using the Intron Jaccard Index. | Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J | medRxiv : the preprint server for health sciences | 37066374 | medRxiv | 2023 Apr 3 |
| Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. | Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K, Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH | PLoS genetics | 37934770 | PLoS Genet | 2023 Nov |
| Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. | Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Schedl T, Pak SC | Molecular genetics and metabolism | 35361529 | Mol Genet Metab | 2022 May |
| Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index. | Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J | American journal of human genetics | 38006880 | Am J Hum Genet | 2023 Dec 7 |
| Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. | Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, Soldatos A, Murphy JL, Gorman MP, Lindsey A, Shimada S, Turner D, Silverman GA, Baldridge D, Undiagnosed Diseases Network, Malicdan MC, Schedl T, Pak SC | Molecular genetics and metabolism | 34412939 | Mol Genet Metab | 2021 Sep-Oct |
| A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. | Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA, Undiagnosed Diseases Network, Pak SC, Brody SL, Schedl T | Proceedings of the National Academy of Sciences of the United States of America | 35121658 | Proc Natl Acad Sci U S A | 2022 Feb 8 |
| Simulation of undiagnosed patients with novel genetic conditions. | Alsentzer E, Finlayson SG, Li MM, Undiagnosed Diseases Network, Kobren SN, Kohane IS | Nature communications | 37828001 | Nat Commun | 2023 Oct 12 |
| MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. | Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, UDN, Perrimon N, Liu Z, Bellen HJ | American journal of human genetics | 28502612 | Am J Hum Genet | 2017 Jun 1 |
| yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. | Blanco-Sánchez B, Clément A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, Zink EM, Bloodsworth KJ, Stratton KG, Undiagnosed Diseases Network, Koeller DM, Metz TO, Washbourne P, Westerfield M | PLoS genetics | 32544203 | PLoS Genet | 2020 Jun |
| Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. | Blanco-Sánchez B, Clément A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, Zink EM, Bloodsworth KJ, Stratton KG, Undiagnosed Diseases Network, Koeller DM, Metz TO, Washbourne P, Westerfield M | PLoS genetics | 33104717 | PLoS Genet | 2020 Oct |
| 'Fly-ing' from rare to common neurodegenerative disease mechanisms. | Ma M, Moulton MJ, Lu S, Bellen HJ | Trends in genetics : TIG | 35484057 | Trends Genet | 2022 Sep |
| The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. | Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Undiagnosed Diseases Network, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ | Human molecular genetics | 35405010 | Hum Mol Genet | 2022 Aug 25 |
| COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. | Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B | American journal of human genetics | 34450031 | Am J Hum Genet | 2021 Sep 2 |
| De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. | Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, MAE Working Group of EuroEPINOMICS RES Consortium, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ | Brain : a journal of neurology | 34788397 | Brain | 2022 Jun 3 |
| TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. | Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Bellen HJ, Tan QK | American journal of human genetics | 34314705 | Am J Hum Genet | 2021 Sep 2 |
| IRF2BPL Is Associated with Neurological Phenotypes. | Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM | American journal of human genetics | 30057031 | Am J Hum Genet | 2018 Aug 2 |
| A cell cycle-independent, conditional gene inactivation strategy for differentially tagging wild-type and mutant cells. | Nagarkar-Jaiswal S, Manivannan SN, Zuo Z, Bellen HJ | eLife | 28561736 | Elife | 2017 May 31 |
| SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. | Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Undiagnosed Disease Network, Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM | Brain : a journal of neurology | 36718090 | Brain | 2023 Apr 19 |
| De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. | Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Undiagnosed Diseases Network, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF | Genetics in medicine : official journal of the American College of Medical Genetics | 37013900 | Genet Med | 2023 Jun |
| SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH | Human mutation | 30817854 | Hum Mutat | 2019 Jul |
| Unweaving the role of nuclear Lamins in neural circuit integrity. | Deal SL, Yamamoto S | Cell stress | 31223139 | Cell Stress | 2018 Sep 10 |
| Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. | Yamamoto S | Development, growth & differentiation | 31943162 | Dev Growth Differ | 2020 Jan |
| Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. | Wang J, Liu Z, Bellen HJ, Yamamoto S | Journal of visualized experiments : JoVE | 31475990 | J Vis Exp | 2019 Aug 15 |
| The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. | Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ, Undiagnosed Diseases Network, Wise AL | American journal of human genetics | 28157539 | Am J Hum Genet | 2017 Feb 2 |
| A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV | American journal of human genetics | 28017372 | Am J Hum Genet | 2017 Jan 5 |
| Genetic strategies to tackle neurological diseases in fruit flies. | Şentürk M, Bellen HJ | Current opinion in neurobiology | 29128849 | Curr Opin Neurobiol | 2018 Jun |
| A gene-specific T2A-GAL4 library for Drosophila. | Lee PT, Zirin J, Kanca O, Lin WW, Schulze KL, Li-Kroeger D, Tao R, Devereaux C, Hu Y, Chung V, Fang Y, He Y, Pan H, Ge M, Zuo Z, Housden BE, Mohr SE, Yamamoto S, Levis RW, Spradling AC, Perrimon N, Bellen HJ | eLife | 29565247 | Elife | 2018 Mar 22 |
| The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. | Bellen HJ, Wangler MF, Yamamoto S | Human molecular genetics | 31227826 | Hum Mol Genet | 2019 Nov 21 |
| De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. | Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV | American journal of human genetics | 31327508 | Am J Hum Genet | 2019 Aug 1 |
| Post-Developmental Roles of Notch Signaling in the Nervous System. | Salazar JL, Yang SA, Yamamoto S | Biomolecules | 32630239 | Biomolecules | 2020 Jul 1 |
| Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. | Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ | Neuron | 32169171 | Neuron | 2020 May 20 |
| Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B | American journal of human genetics | 30773277 | Am J Hum Genet | 2019 Mar 7 |
| Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. | Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y, Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA | American journal of medical genetics. Part A | 30920161 | Am J Med Genet A | 2019 Jun |
| An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination. | Kanca O, Zirin J, Hu Y, Tepe B, Dutta D, Lin WW, Ma L, Ge M, Zuo Z, Liu LP, Levis RW, Perrimon N, Bellen HJ | eLife | 35723254 | Elife | 2022 Jun 20 |
| Autolysosomal exocytosis of lipids protect neurons from ferroptosis. | Ralhan I, Chang J, Moulton MJ, Goodman LD, Lee NYJ, Plummer G, Pasolli HA, Matthies D, Bellen HJ, Ioannou MS | The Journal of cell biology | 37036445 | J Cell Biol | 2023 Jun 5 |
| Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. | Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C, Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S | Human molecular genetics | 33864376 | Hum Mol Genet | 2021 Jun 26 |
| A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. | Yan YL, Titus T, Desvignes T, BreMiller R, Batzel P, Sydes J, Farnsworth D, Dillon D, Wegner J, Phillips JB, Peirce J, Dowd J, Undiagnosed Diseases Network, Buck CL, Miller A, Westerfield M, Postlethwait JH | Genetics | 33724412 | Genetics | 2021 Feb 9 |
| Unravelling spatial gene associations with SEAGAL: a Python package for spatial transcriptomics data analysis and visualization. | Wang L, Liu C, Gao Y, Zhang XH, Liu Z | Bioinformatics (Oxford, England) | 37436699 | Bioinformatics | 2023 Jul 1 |
| Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. | Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA | Genetics in medicine : official journal of the American College of Medical Genetics | 39036895 | Genet Med | 2024 Nov |
| Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. | Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ | Proceedings of the National Academy of Sciences of the United States of America | 38381787 | Proc Natl Acad Sci U S A | 2024 Feb 27 |
| Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila. | Liao JZ, Chung HL, Shih C, Wong KKL, Dutta D, Nil Z, Burns CG, Kanca O, Park YJ, Zuo Z, Marcogliese PC, Sew K, Bellen HJ, Verheyen EM | Nature communications | 38637532 | Nat Commun | 2024 Apr 18 |
| Building dialogues between clinical and biomedical research through cross-species collaborations. | Chao HT, Liu L, Bellen HJ | Seminars in cell & developmental biology | 28579453 | Semin Cell Dev Biol | 2017 Oct |
| Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. | Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF, Members of the UDN | PLoS genetics | 28742085 | PLoS Genet | 2017 Jul |
| Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. | Cook MS, Cazin C, Amoyel M, Yamamoto S, Bach E, Nystul T | Genetics | 28512187 | Genetics | 2017 Jul |
| Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. | Chung HL, Ye Q, Park YJ, Zuo Z, Mok JW, Kanca O, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJ | Cell metabolism | 37084732 | Cell Metab | 2023 May 2 |
| Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. | Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M, Undiagnosed Disease Network, Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ | American journal of human genetics | 37827158 | Am J Hum Genet | 2023 Nov 2 |
| Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis. | Shah PS, Link N, Jang GM, Sharp PP, Zhu T, Swaney DL, Johnson JR, Von Dollen J, Ramage HR, Satkamp L, Newton B, Hüttenhain R, Petit MJ, Baum T, Everitt A, Laufman O, Tassetto M, Shales M, Stevenson E, Iglesias GN, Shokat L, Tripathi S, Balasubramaniam V, Webb LG, Aguirre S, Willsey AJ, Garcia-Sastre A, Pollard KS, Cherry S, Gamarnik AV, Marazzi I, Taunton J, Fernandez-Sesma A, Bellen HJ, Andino R, Krogan NJ | Cell | 30550790 | Cell | 2018 Dec 13 |
| Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. | Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S | Human molecular genetics | 29726930 | Hum Mol Genet | 2018 Jul 15 |
| Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. | Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M | Orphanet journal of rare diseases | 33962631 | Orphanet J Rare Dis | 2021 May 7 |
| Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. | Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Undiagnosed Diseases Network, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ | Genetics in medicine : official journal of the American College of Medical Genetics | 34113007 | Genet Med | 2021 Oct |
| A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. | Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH, Undiagnosed Diseases Network, Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJ | Nature metabolism | 37653044 | Nat Metab | 2023 Sep |
| The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. | Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ | American journal of human genetics | 36067766 | Am J Hum Genet | 2022 Oct 6 |
| A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Undiagnosed Diseases Network, Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH | American journal of human genetics | 30290151 | Am J Hum Genet | 2018 Oct 4 |
| Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. | Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network | The New England journal of medicine | 30304647 | N Engl J Med | 2018 Nov 29 |
| In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. | Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S | Journal of visualized experiments : JoVE | 31498321 | J Vis Exp | 2019 Aug 20 |
| Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. | Wang J, Mao D, Fazal F, Kim SY, Yamamoto S, Bellen H, Liu Z | Current protocols in bioinformatics | 31524990 | Curr Protoc Bioinformatics | 2019 Sep |
| Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila. | Deal SL, Yamamoto S | Frontiers in genetics | 30693015 | Front Genet | 2018 |
| De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. | Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT | American journal of human genetics | 32197074 | Am J Hum Genet | 2020 Apr 2 |
| De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. | Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ | Human molecular genetics | 32356556 | Hum Mol Genet | 2020 Jun 3 |
| ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. | Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY, Undiagnosed Diseases Network, Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S | Human mutation | 35224820 | Hum Mutat | 2022 Jun |
| AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. | Mao D, Liu C, Wang L, Ai-Ouran R, Deisseroth C, Pasupuleti S, Kim SY, Li L, Rosenfeld JA, Meng L, Burrage LC, Wangler MF, Yamamoto S, Undiagnosed Diseases Network, Santana M, Perez V, Shukla P, Eng CM, Lee B, Yuan B, Xia F, Bellen HJ, Liu P, Liu Z | NEJM AI | 38962029 | NEJM AI | 2024 May |
| Drosophila as a Model for Infectious Diseases. | Harnish JM, Link N, Yamamoto S | International journal of molecular sciences | 33800390 | Int J Mol Sci | 2021 Mar 8 |
| Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases. | Link N, Bellen HJ | Development (Cambridge, England) | 32988995 | Development | 2020 Sep 28 |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. | Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network,, Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics (UW-CMG),, Bamshad MJ | Genetics in medicine : official journal of the American College of Medical Genetics | 31723249 | Genet Med | 2020 Mar |
| Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. | Link N, Chung H, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, Clark RD, Mirzaa GM, Lupski JR, Bellen HJ | Developmental cell | 31735666 | Dev Cell | 2019 Dec 16 |
| Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. | Grove ME, White S, Fisk DG, Rego S, Dagan-Rosenfeld O, Kohler JN, Reuter CM, Bonner D, Undiagnosed Diseases Network, Wheeler MT, Bernstein JA, Ormond KE, Hanson-Kahn AK | Journal of genetic counseling | 30706981 | J Genet Couns | 2019 Apr |
| Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals. | Clément A, Blanco-Sánchez B, Peirce JL, Westerfield M | Mechanisms of development | 30287385 | Mech Dev | 2019 Feb |
| Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT | American journal of human genetics | 29478781 | Am J Hum Genet | 2018 Mar 1 |
| IRF2BPL Is Associated with Neurological Phenotypes. | Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM | American journal of human genetics | 30193138 | Am J Hum Genet | 2018 Sep 6 |
| Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. | Salazar JL, Yamamoto S | Advances in experimental medicine and biology | 30030826 | Adv Exp Med Biol | 2018 |
| Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. | Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ | Genetics | 28874452 | Genetics | 2017 Sep |
| A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. | Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V | American journal of human genetics | 28132692 | Am J Hum Genet | 2017 Feb 2 |
| Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. | Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Baylor-Hopkins Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR | American journal of human genetics | 27640307 | Am J Hum Genet | 2016 Oct 6 |
| An estrogen-sensitive hypothalamus-midbrain neural circuit controls thermogenesis and physical activity. | Ye H, Feng B, Wang C, Saito K, Yang Y, Ibrahimi L, Schaul S, Patel N, Saenz L, Luo P, Lai P, Torres V, Kota M, Dixit D, Cai X, Qu N, Hyseni I, Yu K, Jiang Y, Tong Q, Sun Z, Arenkiel BR, He Y, Xu P, Xu Y | Science advances | 35044814 | Sci Adv | 2022 Jan 21 |
| Defining the clinical phenotype of Saul-Wilson syndrome. | Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB | Genetics in medicine : official journal of the American College of Medical Genetics | 31949312 | Genet Med | 2020 May |
| BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. | Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ | American journal of human genetics | 33232675 | Am J Hum Genet | 2020 Dec 3 |
| Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. | Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE | Nature communications | 31616000 | Nat Commun | 2019 Oct 15 |
| Promoting validation and cross-phylogenetic integration in model organism research. | Cheng KC, Burdine RD, Dickinson ME, Ekker SC, Lin AY, Lloyd KCK, Lutz CM, MacRae CA, Morrison JH, O'Connor DH, Postlethwait JH, Rogers CD, Sanchez S, Simpson JH, Talbot WS, Wallace DC, Weimer JM, Bellen HJ | Disease models & mechanisms | 36125045 | Dis Model Mech | 2022 Sep 1 |
| A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. | Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA, Undiagnosed Diseases Network, Yamamoto S, Sweetser DA, Wangler MF | Genetics | 37314226 | Genetics | 2023 Aug 9 |
| De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. | Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ | medRxiv : the preprint server for health sciences | 38260438 | medRxiv | 2024 Jan 9 |
| A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. | Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA, Undiagnosed Diseases Network, Yamamoto S, Sweetser DA, Wangler M | medRxiv : the preprint server for health sciences | 36778246 | medRxiv | 2023 Feb 3 |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder. | Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ | American journal of human genetics | 37054711 | Am J Hum Genet | 2023 May 4 |
| Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models. | Jay KL, Gogate N, Ezell K, Andrews JC, Jangam SV, Hall PI, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch E, Brain Gene Registry Consortium, Undiagnosed Diseases Network, Yamamoto S, Kanca O, Bellen HJ, Dierick H, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Posey JE, Wangler MF | medRxiv : the preprint server for health sciences | 39399018 | medRxiv | 2024 Sep 28 |
| Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. | Gourdine JF, Brush MH, Vasilevsky NA, Shefchek K, Köhler S, Matentzoglu N, Munoz-Torres MC, McMurry JA, Zhang XA, Robinson PN, Haendel MA | Database : the journal of biological databases and curation | 31735951 | Database (Oxford) | 2019 Jan 1 |
| Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network. | Webb-Robertson BM, Stratton KG, Kyle JE, Kim YM, Bramer LM, Waters KM, Koeller DM, Metz TO | Analytical chemistry | 31742994 | Anal Chem | 2020 Jan 21 |
| A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. | Kyle JE, Stratton KG, Zink EM, Kim YM, Bloodsworth KJ, Monroe ME, Undiagnosed Diseases Network, Waters KM, Webb-Robertson BM, Koeller DM, Metz TO | Scientific data | 33883556 | Sci Data | 2021 Apr 21 |
| The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. | Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, CSER consortium, Plon SE, Jarvik GP | American journal of human genetics | 30193136 | Am J Hum Genet | 2018 Sep 6 |
| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA | Genetics in medicine : official journal of the American College of Medical Genetics | 30287922 | Genet Med | 2019 May |
| Development of FamilyTalk: an Intervention to Support Communication and Educate Families About Colorectal Cancer Risk. | Bowen DJ, Hyams T, Laurino M, Woolley T, Cohen S, Leppig KA, Jarvik G | Journal of cancer education : the official journal of the American Association for Cancer Education | 30737640 | J Cancer Educ | 2020 Jun |
| Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. | Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB | bioRxiv : the preprint server for biology | 37808736 | bioRxiv | 2023 Sep 27 |
| Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. | Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Undiagnosed Diseases Network, Sunyaev SR, Kohane IS | Genetics in medicine : official journal of the American College of Medical Genetics | 33580225 | Genet Med | 2021 Jun |
| Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. | Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Bohaczuk SC, Mao Y, Cheng YH, Ranchalis J, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, Stacey AW, University of Washington Center for Rare Disease Research, Undiagnosed Diseases Network, Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB | Nature genetics | 39880924 | Nat Genet | 2025 Feb |
| Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment. | Weymann D, Veenstra DL, Jarvik GP, Regier DA | European journal of human genetics : EJHG | 29802320 | Eur J Hum Genet | 2018 Sep |
| Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. | Niu X, Amendola LM, Hart R, Bennette CS, Heagerty P, Horike-Pyne M, Trinidad SB, Rosenthal EA, Comstock B, Nefcy C, Hisama FM, Bennett RL, Grady WM, Gallego CJ, Tarczy-Hornoch P, Fullerton SM, Burke W, Regier DA, Dorschner MO, Shirts BH, Robertson PD, Nickerson DA, Patrick DL, Jarvik GP, Veenstra DL | Contemporary clinical trials | 31400517 | Contemp Clin Trials | 2019 Sep |
| Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling. | Hall TO, Stanaway IB, Carrell DS, Carroll RJ, Denny JC, Hakonarson H, Larson EB, Mentch FD, Peissig PL, Pendergrass SA, Rosenthal EA, Jarvik GP, Crosslin DR | Genes and immunity | 30459343 | Genes Immun | 2019 Sep |
| Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. | Kohler JN, Glanton E, Boyd BM, Sillari CH, Marwaha S, Undiagnosed Diseases Network, Wheeler MT | Journal of genetic counseling | 34374469 | J Genet Couns | 2022 Apr |
| A review and definition of 'usual care' in genetic counseling trials to standardize use in research. | Biesecker BB, Lillie SE, Amendola LM, Donohue KE, East KM, Foreman AKM, Gilmore MJ, Greve V, Liangolou B, O'Daniel JM, Odgis JA, Rego S, Rolf B, Scollon S, Suckiel SA, Zepp J, Joseph G | Journal of genetic counseling | 33278053 | J Genet Couns | 2021 Feb |
| De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. | Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Care4Rare Canada Consortium, Undiagnosed Diseases Network, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J | American journal of human genetics | 38531365 | Am J Hum Genet | 2024 Apr 4 |
| Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN), Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB | Annals of clinical and translational neurology | 37194416 | Ann Clin Transl Neurol | 2023 Jun |
| Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium. | Amendola LM, Robinson JO, Hart R, Biswas S, Lee K, Bernhardt BA, East K, Gilmore MJ, Kauffman TL, Lewis KL, Roche M, Scollon S, Wynn J, Blout C | Journal of genetic counseling | 29497922 | J Genet Couns | 2018 Sep |
| Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests. | Amendola LM, Hart MR, Bennett RL, Horike-Pyne M, Dorschner M, Shirts B, Jarvik GP | Journal of genetic counseling | 31317629 | J Genet Couns | 2019 Dec |
| Rare loss of function variants in candidate genes and risk of colorectal cancer. | Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP, NHLBI GO Exome Sequencing Project | Human genetics | 30267214 | Hum Genet | 2018 Oct |
| Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings. | Christensen KD, Bernhardt BA, Jarvik GP, Hindorff LA, Ou J, Biswas S, Powell BC, Grundmeier RW, Machini K, Karavite DJ, Pennington JW, Krantz ID, Berg JS, Goddard KAB | Genetics in medicine : official journal of the American College of Medical Genetics | 29388940 | Genet Med | 2018 Oct |
| Diversity, inclusion and equity in medical genetics: The time is now. | Quintero-Rivera F, Hisama FM | American journal of medical genetics. Part A | 33010189 | Am J Med Genet A | 2020 Dec |
| A decision aid for additional findings in genomic sequencing: Development and pilot testing. | Freed AS, Gruß I, McMullen CK, Leo MC, Kauffman TL, Porter KM, Muessig KR, Eubanks D, Goddard KAB, Wilfond BS, Liles EG | Patient education and counseling | 33191058 | Patient Educ Couns | 2021 May |
| Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. | Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M, University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM | bioRxiv : the preprint server for biology | 36798371 | bioRxiv | 2023 Feb 7 |
| Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. | Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH, University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network, Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA | Rare (Amsterdam, Netherlands) | 39421685 | Rare | 2024 |
| Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. | Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Undiagnosed Diseases Network, Tekin M, Züchner S | Annals of clinical and translational neurology | 38504481 | Ann Clin Transl Neurol | 2024 Apr |
| EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. | Forghani I, Lang SH, Rodier MJ, Bivona SA, Undiagnosed Diseases Network, Morales AA, Zuchner S, Bademci G, Tekin M | American journal of medical genetics. Part A | 38348595 | Am J Med Genet A | 2024 Jun |
| H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. | Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Undiagnosed Diseases Network, Bademci G, Tekin M | American journal of medical genetics. Part A | 36987712 | Am J Med Genet A | 2023 Jul |
| Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. | Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M | Human molecular genetics | 35913761 | Hum Mol Genet | 2023 Jan 1 |
| SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. | Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A, Undiagnosed Diseases Network, Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N | Nature communications | 38413582 | Nat Commun | 2024 Feb 27 |
| Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. | Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S, Undiagnosed Disease Network, Bademci G, Tekin M | Molecular genetics & genomic medicine | 35247231 | Mol Genet Genomic Med | 2022 Apr |
| KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3. | Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH, Undiagnosed Diseases Network, Bademci G, Tekin M, Undiagnosed Diseases Network NIH | Journal of medical genetics | 39643435 | J Med Genet | 2025 Jan 27 |
| Beyond Race: A Wake-up Call for Drug Therapy Informed by Genotyping. | Sirugo G, Wonkam A | Annals of internal medicine | 35724383 | Ann Intern Med | 2022 Aug |
| Very early-onset inflammatory bowel disease: an integrated approach. | Sullivan KE, Conrad M, Kelsen JR | Current opinion in allergy and clinical immunology | 30299395 | Curr Opin Allergy Clin Immunol | 2018 Dec |
| The quagmire of race, genetic ancestry, and health disparities. | Sirugo G, Tishkoff SA, Williams SM | The Journal of clinical investigation | 34060479 | J Clin Invest | 2021 Jun 1 |
| Characterizing the pathogenicity of genetic variants: the consequences of context. | Ciesielski TH, Sirugo G, Iyengar SK, Williams SM | NPJ genomic medicine | 38195641 | NPJ Genom Med | 2024 Jan 9 |
| Kagami Ogata syndrome: a small deletion refines critical region for imprinting. | Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE, UDN Consortium | NPJ genomic medicine | 38212313 | NPJ Genom Med | 2024 Jan 11 |
| Pitfalls of genetic testing in a patient with IKBKG deficiency. | Kilich G, Patel S, Hassey K, Weinberger T, Sullivan KE | Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology | 38897406 | Ann Allergy Asthma Immunol | 2024 Oct |
| Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. | Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH | Journal of inherited metabolic disease | 32681751 | J Inherit Metab Dis | 2020 Nov |
| Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease. | Young JL, Halley MC, Anguiano B, Fernandez L, Bernstein JA, Wheeler MT, Tabor HK, Undiagnosed Diseases Network Consortium | Frontiers in genetics | 36072659 | Front Genet | 2022 |
| The Intersection of Work and Home Challenges Faced by Physician Mothers During the Coronavirus Disease 2019 Pandemic: A Mixed-Methods Analysis. | Halley MC, Mathews KS, Diamond LC, Linos E, Sarkar U, Mangurian C, Sabry H, Goyal MK, Olazo K, Miller EG, Jagsi R, Linos E | Journal of women's health (2002) | 33761277 | J Womens Health (Larchmt) | 2021 Apr |
| Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome. | Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J, Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH | The Journal of allergy and clinical immunology | 33771552 | J Allergy Clin Immunol | 2021 Aug |
| Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. | Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, Carrington B, Bishop K, Sood R, Huang Y, Elkahloun A, Toro C, Bassuk AG, Wheeler MT, Markello TC, Gahl WA, Malicdan MCV | Journal of neurogenetics | 33970744 | J Neurogenet | 2021 Mar-Jun |
| Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. | Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK, Undiagnosed Diseases Network | The Journal of pediatrics | 37271495 | J Pediatr | 2023 Oct |
| Impact of genome build on RNA-seq interpretation and diagnostics. | Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA, Undiagnosed Diseases Network, Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB | medRxiv : the preprint server for health sciences | 38260490 | medRxiv | 2024 Jan 12 |
| Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. | Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S, Undiagnosed Diseases Network, Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A | medRxiv : the preprint server for health sciences | 38585781 | medRxiv | 2024 Mar 26 |
| Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. | Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Undiagnosed Diseases Network, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG | Annals of clinical and translational neurology | 38311799 | Ann Clin Transl Neurol | 2024 Mar |
| A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. | Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG, Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT | Journal of genetic counseling | 30964584 | J Genet Couns | 2019 Apr |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. | Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN | Nucleic acids research | 30476213 | Nucleic Acids Res | 2019 Jan 8 |
| Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. | Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE, HipSci Consortium, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium, Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O | Nature genetics | 33664507 | Nat Genet | 2021 Mar |
| Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy. | De Jong HN, Dewey FE, Cordero P, Victorio RA, Kirillova A, Huang Y, Madhvani R, Seo K, Werdich AA, Lan F, Orcholski M, Liu WR, Erbilgin A, Wheeler MT, Chen R, Pan S, Kim YM, Bommakanti K, Marcou CA, Bos JM, Haddad F, Ackerman M, Vasan RS, MacRae C, Wu JC, de Jesus Perez V, Snyder M, Parikh VN, Ashley EA | Circulation. Genomic and precision medicine | 35671065 | Circ Genom Precis Med | 2022 Aug |
| Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. | Halley MC, Young JL, Fernandez L, Kohler JN, Undiagnosed Diseases Network, Bernstein JA, Wheeler MT, Tabor HK | American journal of medical genetics. Part A | 34981646 | Am J Med Genet A | 2022 Apr |
| The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. | Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M | Neurology | 33144514 | Neurology | 2020 Dec 15 |
| Impact of genome build on RNA-seq interpretation and diagnostics. | Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA, Undiagnosed Diseases Network, Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB | American journal of human genetics | 38834072 | Am J Hum Genet | 2024 Jul 11 |
| Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. | Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M, Undiagnosed Diseases Network, Adams DR, Hisama FM, Shashi V | American journal of medical genetics. Part A | 39629753 | Am J Med Genet A | 2025 Apr |
| Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. | Stellacci E, Carter JN, Pannone L, Stevenson D, Moslehi D, Venanzi S, Undiagnosed Diseases Network, Bernstein JA, Tartaglia M, Martinelli S | American journal of medical genetics. Part A | 38613168 | Am J Med Genet A | 2024 Aug |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. | Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB | Nature medicine | 31160820 | Nat Med | 2019 Jun |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. | Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS | Acta neuropathologica | 31820119 | Acta Neuropathol | 2020 Mar |
| Supporting undiagnosed participants when clinical genomics studies end. | Halley MC, Ashley EA, Tabor HK | Nature genetics | 35902745 | Nat Genet | 2022 Aug |
| Toward transcriptomics as a primary tool for rare disease investigation. | Montgomery SB, Bernstein JA, Wheeler MT | Cold Spring Harbor molecular case studies | 35217565 | Cold Spring Harb Mol Case Stud | 2022 Feb |
| Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. | Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Undiagnosed Diseases Network, Liu B, Majer O, Barton GM | The Journal of experimental medicine | 38780621 | J Exp Med | 2024 Aug 5 |
| Transcriptome-wide outlier approach identifies individuals with minor spliceopathies. | Arriaga MT, Mendez R, Ungar RA, Bonner DE, Matalon DR, Lemire G, Goddard PC, Padhi EM, Miller AM, Nguyen JV, Ma J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Bademci G, Bivona SA, Tekin M, Undiagnosed Disease Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS | medRxiv : the preprint server for health sciences | 39802771 | medRxiv | 2025 Jan 3 |
| Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. | Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Undiagnosed Diseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT | Journal of genetic counseling | 31478310 | J Genet Couns | 2019 Dec |
| "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey. | Deuitch NT, Beckman E, Halley MC, Young JL, Reuter CM, Kohler J, Bernstein JA, Wheeler MT, Undiagnosed Diseases Network, Ormond KE, Tabor HK | Journal of genetic counseling | 34096130 | J Genet Couns | 2021 Dec |
| Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review. | Miller EG, Woodward AL, Flinchum G, Young JL, Tabor HK, Halley MC | Genetics in medicine : official journal of the American College of Medical Genetics | 34282302 | Genet Med | 2021 Dec |
| Whole-Transcriptome Profiling of Human Heart Tissues Reveals the Potential Novel Players and Regulatory Networks in Different Cardiomyopathy Subtypes of Heart Failure. | Liu CF, Ni Y, Moravec CS, Morley M, Ashley EA, Cappola TP, Margulies KB, Tang WHW | Circulation. Genomic and precision medicine | 33517678 | Circ Genom Precis Med | 2021 Feb |
| Caring for the Caregivers - Covid-19 Vaccination for Essential Members of the Health Care Team. | Halley MC, Mangurian C | The New England journal of medicine | 33577149 | N Engl J Med | 2021 Mar 4 |
| ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. | Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R, Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G | Genetics in medicine : official journal of the American College of Medical Genetics | 30514889 | Genet Med | 2019 Jul |
| A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. | Hom J, Marwaha S, Postolova A, Kittle J, Vasquez R, Davidson J, Kohler J, Dries A, Fernandez-Betancourt L, Majcherska M, Dearlove J, Raghavan S, Vogel H, Bernstein JA, Fisher P, Ashley E, Sampson J, Wheeler M, Undiagnosed Diseases Network | Journal of general internal medicine | 30887439 | J Gen Intern Med | 2019 Jun |
| A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States. | Halley MC, Smith HS, Ashley EA, Goldenberg AJ, Tabor HK | Nature genetics | 35256804 | Nat Genet | 2022 Mar |
| Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network. | Levy KD, Blake K, Fletcher-Hoppe C, Franciosi J, Goto D, Hicks JK, Holmes AM, Kanuri SH, Madden EB, Musty MD, Orlando L, Pratt VM, Ramos M, Wu R, Ginsburg GS | Genetics in medicine : official journal of the American College of Medical Genetics | 33288881 | Genet Med | 2021 Oct |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. | Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Undiagnosed Diseases Network, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V | Genetics in medicine : official journal of the American College of Medical Genetics | 33093671 | Genet Med | 2021 Feb |
| Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics. | Kim DS, Wiel L, Ashley EA | Clinical chemistry | 36112529 | Clin Chem | 2023 Jan 4 |
| Blurred Boundaries: Toward an Expanded Ethics of Research and Clinical Care. | Halley MC, Olson NW | The American journal of bioethics : AJOB | 38410998 | Am J Bioeth | 2023 Aug |
| Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. | Pucel J, Briere LC, Reuter C, Gochyyev P, Undiagnosed Diseases Network, LeBlanc K | Genetics in medicine : official journal of the American College of Medical Genetics | 38436216 | Genet Med | 2024 Jun |
| Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. | Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM, Undiagnosed Diseases Network, Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT | Genetics in medicine : official journal of the American College of Medical Genetics | 38767059 | Genet Med | 2024 Sep |
| Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care. | Halley MC, Halverson CME, Tabor HK, Goldenberg AJ | The American journal of bioethics : AJOB | 37204146 | Am J Bioeth | 2023 Jul |
| Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. | Vasireddi SK, Draksler TZ, Bouman A, Kummeling J, Wheeler M, Reuter C, Srivastava S, Harris J, Fisher PG, Narayan SM, Wang PJ, Badhwar N, Kleefstra T, Perez MV | Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 38195854 | Europace | 2023 Dec 28 |
| A Just Genomics Needs an ELSI of Translation. | Halley MC, Olson NW, Ashley EA, Goldenberg AJ, Tabor HK | The Hastings Center report | 39707956 | Hastings Cent Rep | 2024 Dec |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. | Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N | medRxiv : the preprint server for health sciences | 38645094 | medRxiv | 2024 Apr 9 |
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| Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. | Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Undiagnosed Diseases Network, Bayrak-Toydemir P, Botto LD, Mao R | American journal of medical genetics. Part A | 38168088 | Am J Med Genet A | 2024 May |
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| Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms. | Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J, Undiagnosed Diseases Network | Molecular genetics & genomic medicine | 31020813 | Mol Genet Genomic Med | 2019 Jun |
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| 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. | Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT, Undiagnosed Diseases Network (UDN) | Molecular genetics and metabolism | 30031689 | Mol Genet Metab | 2018 Sep |
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| Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. | Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT | American journal of medical genetics. Part A | 30569621 | Am J Med Genet A | 2019 Mar |
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| MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data. | Aicher JK, Issakova D, Slaff B, Jewell S, Lahens NF, Grant GR, Baralle D, Rosenfeld JA, Scott DA, Undiagnosed Diseases Network, Bhoj EJ, Barash Y | medRxiv : the preprint server for health sciences | 39974028 | medRxiv | 2025 Feb 2 |
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| Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. | Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM | American journal of human genetics | 30580808 | Am J Hum Genet | 2019 Jan 3 |
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| Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. | Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC, Undiagnosed Diseases Network, Wangler MF | Molecular genetics & genomic medicine | 33350591 | Mol Genet Genomic Med | 2021 Jan |
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| Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1. | Bodle EE, Zhu W, Velez-Bartolomei F, Tesi-Rocha A, Liu P, Bernstein JA | Pediatric neurology | 33189025 | Pediatr Neurol | 2021 Jan |
| Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. | Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L | Human mutation | 31696996 | Hum Mutat | 2020 Mar |
| A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. | Dai H, Zhu W, Yuan B, Walley N, Schoch K, Jiang YH, Phillips JA, Jones MS, Liu P, Murdock DR, Burrage LC, Lee B, Rosenfeld JA, Xiao R, Undiagnosed Diseases Network | Human mutation | 36317458 | Hum Mutat | 2022 Dec |
| De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. | Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B | American journal of human genetics | 32330417 | Am J Hum Genet | 2020 May 7 |
| Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. | Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP | Genetics in medicine : official journal of the American College of Medical Genetics | 30679821 | Genet Med | 2019 Aug |
| A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. | Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC | American journal of medical genetics. Part A | 33949769 | Am J Med Genet A | 2021 Aug |
| Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. | Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Undiagnosed Diseases Network, Gelb BD, Kurth I, Hempel M, Kutsche K | Brain : a journal of neurology | 32761064 | Brain | 2020 Aug 1 |
| Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. | Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J, Undiagnosed Diseases Network, Wang X, Miller MJ, Bi W, Liu P, Scaglia F | American journal of medical genetics. Part A | 36537114 | Am J Med Genet A | 2023 Mar |
| Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. | LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Undiagnosed Diseases Network, Neale G, Carvill GL, University of Washington Center for Rare Disease Research, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC | Nature communications | 39107278 | Nat Commun | 2024 Aug 6 |
| Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. | Waskow ER, Undiagnosed Diseases Network, Emrick LT, Rosenfeld JA, Ketkar S, Burrage LC, Scott DA | American journal of medical genetics. Part A | 39166428 | Am J Med Genet A | 2025 Jan |
| Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. | Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H, Undiagnosed Diseases Network, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A | Genome research | 39486878 | Genome Res | 2024 Nov 20 |
| Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. | Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Calì E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V | Cerebellum (London, England) | 35218524 | Cerebellum | 2023 Apr |
| Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. | Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW | Blood | 34767620 | Blood | 2022 Feb 17 |
| Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y | Nature genetics | 28288113 | Nat Genet | 2017 Apr |
| Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. | Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B | Genetics in medicine : official journal of the American College of Medical Genetics | 30568308 | Genet Med | 2019 Jul |
| Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. | Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Undiagnosed Diseases Network members, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS | American journal of human genetics | 29805043 | Am J Hum Genet | 2018 Jun 7 |
| Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results. | Stevens Smith H, Russell HV, Lee BH, Morain SR, and the Value of Exome Sequencing Delphi Panel | Genetics in medicine : official journal of the American College of Medical Genetics | 31273346 | Genet Med | 2020 Jan |
| Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. | Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P | Human genetics | 28251352 | Hum Genet | 2017 Apr |
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC | Human molecular genetics | 27378692 | Hum Mol Genet | 2016 Aug 15 |
| Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR | Genome medicine | 28807008 | Genome Med | 2017 Aug 14 |
| The Expanding Role of Genetics in Cerebral Palsy. | Emrick LT, DiCarlo SM | Physical medicine and rehabilitation clinics of North America | 31760988 | Phys Med Rehabil Clin N Am | 2020 Feb |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. | Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V | Genetics in medicine : official journal of the American College of Medical Genetics | 34163037 | Genet Med | 2021 Oct |
| Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. | Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A | Brain : a journal of neurology | 35675510 | Brain | 2022 Aug 27 |
| RNA Sequencing as a Diagnostic Tool. | Ketkar S, Burrage LC, Lee B | JAMA | 36525251 | JAMA | 2023 Jan 3 |
| What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing? | Murdock DR, Rosenfeld JA, Lee B | Annual review of medicine | 35084988 | Annu Rev Med | 2022 Jan 27 |
| De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. | Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Undiagnosed Diseases Network, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA | American journal of medical genetics. Part A | 37743782 | Am J Med Genet A | 2024 Jan |
| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT | American journal of human genetics | 38181735 | Am J Hum Genet | 2024 Jan 4 |
| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C, Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG | Genetics in medicine : official journal of the American College of Medical Genetics | 29469822 | Genet Med | 2018 Oct |
| TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. | Akula SK, Marciano JH, Lim Y, Exposito-Alonso D, Hylton NK, Hwang GH, Neil JE, Dominado N, Bunton-Stasyshyn RK, Song JHT, Talukdar M, Schmid A, Teboul L, Mo A, Shin T, Finander B, Beck SG, Yeh RC, Otani A, Qian X, DeGennaro EM, Alkuraya FS, Maddirevula S, Cascino GD, Giannini C, Undiagnosed Diseases Network, Burrage LC, Rosenfield JA, Ketkar S, Clark GD, Bacino C, Lewis RA, Segal RA, Bazan JF, Smith KA, Golden JA, Cho G, Walsh CA | Proceedings of the National Academy of Sciences of the United States of America | 36669111 | Proc Natl Acad Sci U S A | 2023 Jan 24 |
| Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. | Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P | Annals of clinical and translational neurology | 30349862 | Ann Clin Transl Neurol | 2018 Oct |
| The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. | Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Undiagnosed Diseases Network, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z | Human mutation | 34859529 | Hum Mutat | 2022 Feb |
| Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. | Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC, Undiagnosed Diseases Network | American journal of medical genetics. Part A | 35934918 | Am J Med Genet A | 2022 Dec |
| A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. | Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Undiagnosed Diseases Network, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC | American journal of medical genetics. Part A | 35396900 | Am J Med Genet A | 2022 Jul |
| Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. | Cope H, Spillmann R, Rosenfeld JA, Brokamp E, Signer R, Schoch K, Glanton E, Sullivan JA, Macnamara E, Lincoln S, Golden-Grant K, Undiagnosed Diseases Network, Orengo JP, Clark G, Burrage LC, Posey JE, Punetha J, Robertson A, Cogan J, Phillips JA 3rd, Martinez-Agosto J, Shashi V | Molecular genetics & genomic medicine | 32730690 | Mol Genet Genomic Med | 2020 Oct |
| Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. | Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM | Pediatric neurology | 39181022 | Pediatr Neurol | 2024 Nov |
| De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. | Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Undiagnosed Diseases Network, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A | Molecular autism | 34702355 | Mol Autism | 2021 Oct 26 |
| Heterozygous variants in SPTBN1 cause intellectual disability and autism. | Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE, Lee BH | American journal of medical genetics. Part A | 33847457 | Am J Med Genet A | 2021 Jul |
| PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. | Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network, DDD Study, Bi W | Clinical genetics | 33963760 | Clin Genet | 2021 Aug |
| Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. | Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH | American journal of human genetics | 30503518 | Am J Hum Genet | 2018 Dec 6 |
| Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. | Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM, Undiagnosed Diseases Network, Dhar SU | Neurology. Genetics | 30046660 | Neurol Genet | 2018 Aug |
| Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. | Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A | The Journal of experimental medicine | 32207811 | J Exp Med | 2020 Jun 1 |
| Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. | AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC, Undiagnosed Diseases Network, Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS | Brain : a journal of neurology | 36200388 | Brain | 2023 Apr 19 |
| The contribution of mosaicism to genetic diseases and de novo pathogenic variants. | Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA 3rd, Undiagnosed Diseases Network | American journal of medical genetics. Part A | 37246601 | Am J Med Genet A | 2023 Oct |
| Cardiovascular Precision Medicine in the Genomics Era. | Dainis AM, Ashley EA | JACC. Basic to translational science | 30062216 | JACC Basic Transl Sci | 2018 Apr |
| Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3. | Dainis A, Tseng E, Clark TA, Hon T, Wheeler M, Ashley E | Circulation. Genomic and precision medicine | 31112421 | Circ Genom Precis Med | 2019 May |
| Early somatic mosaicism is a rare cause of long-QT syndrome. | Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA | Proceedings of the National Academy of Sciences of the United States of America | 27681629 | Proc Natl Acad Sci U S A | 2016 Oct 11 |
| Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. | DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA | Nature communications | 29691392 | Nat Commun | 2018 Apr 24 |
| The Undiagnosed Diseases Program--Reply. | Gahl WA, Wise AL, Ashley EA | JAMA | 27139070 | JAMA | 2016 May 3 |
| Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. | Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E, Undiagnosed Diseases Network, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT | Cold Spring Harbor molecular case studies | 28050602 | Cold Spring Harb Mol Case Stud | 2017 Jan |
| Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. | Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA | Proceedings of the National Academy of Sciences of the United States of America | 27247418 | Proc Natl Acad Sci U S A | 2016 Jun 14 |
| Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes. | Dainis A, Zaleta-Rivera K, Ribeiro A, Chang ACH, Shang C, Lan F, Burridge PW, Liu WR, Wu JC, Chang ACY, Pruitt BL, Wheeler M, Ashley E | Physiological genomics | 32567507 | Physiol Genomics | 2020 Jul 1 |
| Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. | Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J | JCI insight | 34291734 | JCI Insight | 2021 Jul 22 |
| Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. | Gigli M, Stolfo D, Graw SL, Merlo M, Gregorio C, Nee Chen S, Dal Ferro M, PaldinoMD A, De Angelis G, Brun F, Jirikowic J, Salcedo EE, Turja S, Fatkin D, Johnson R, van Tintelen JP, Te Riele ASJM, Wilde AAM, Lakdawala NK, Picard K, Miani D, Muser D, Maria Severini G, Calkins H, James CA, Murray B, Tichnell C, Parikh VN, Ashley EA, Reuter C, Song J, Judge DP, McKenna WJ, Taylor MRG, Sinagra G, Mestroni L | Circulation | 34587765 | Circulation | 2021 Nov 16 |
| Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. | Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB, Members of the Undiagnosed Diseases Network | Clinical and translational science | 28945957 | Clin Transl Sci | 2018 Jan |
| Cardiovascular disease: The rise of the genetic risk score. | Knowles JW, Ashley EA | PLoS medicine | 29601582 | PLoS Med | 2018 Mar |
| Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab. | Tsai M, Thauland TJ, Huang AY, Bun C, Fitzwater S, Krogstad P, Douine ED, Nelson SF, Lee H, Garcia-Lloret MI, Butte MJ | The New England journal of medicine | 32521134 | N Engl J Med | 2020 Jun 11 |
| Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL, Undiagnosed Diseases Network | Annals of the rheumatic diseases | 35868845 | Ann Rheum Dis | 2022 Oct |
| Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. | McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Undiagnosed Disease Network, Hooper SR, Shashi V | Journal of genetic counseling | 34115423 | J Genet Couns | 2022 Feb |
| Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. | Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Undiagnosed Diseases Network, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV | NPJ genomic medicine | 36765070 | NPJ Genom Med | 2023 Feb 10 |
| MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy. | Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL, Munson GP, Butte MJ | Frontiers in immunology | 33224153 | Front Immunol | 2020 |
| Expansion of NEUROD2 phenotypes to include developmental delay without seizures. | Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Undiagnosed Diseases Network, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA | American journal of medical genetics. Part A | 33438828 | Am J Med Genet A | 2021 Apr |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Isfahani SA, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA | ArXiv | 39990802 | ArXiv | 2025 Feb 10 |
| The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. | McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Undiagnosed Diseases Network, Hooper SR, Shashi V | Clinical genetics | 31448412 | Clin Genet | 2019 Dec |
| Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. | Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV | American journal of human genetics | 30526868 | Am J Hum Genet | 2018 Dec 6 |
| Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. | Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Undiagnosed Diseases Network, Nelson SF | Neuropathology : official journal of the Japanese Society of Neuropathology | 32037607 | Neuropathology | 2020 Jun |
| Increased Menopausal Age Reduces the Risk of Parkinson's Disease: A Mendelian Randomization Approach. | Kusters CDJ, Paul KC, Duarte Folle A, Keener AM, Bronstein JM, Bertram L, Hansen J, Horvath S, Sinsheimer JS, Lill CM, Ritz BR | Movement disorders : official journal of the Movement Disorder Society | 34426982 | Mov Disord | 2021 Oct |
| De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. | Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T | Human molecular genetics | 35234901 | Hum Mol Genet | 2022 Sep 29 |
| Genetic Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease. | Laster ML, Rowan B, Chen HC, Schwantes-An TH, Sheng X, Friedman PA, Ikizler TA, Sinshiemer JS, Ix JH, Susztak K, de Boer IH, Kestenbaum B, Hung A, Moe SM, Perwad F, Robinson-Cohen C | The Journal of clinical endocrinology and metabolism | 35587600 | J Clin Endocrinol Metab | 2022 Aug 18 |
| Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. | McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V, Undiagnosed Diseases Network | American journal of medical genetics. Part A | 38924341 | Am J Med Genet A | 2024 Nov |
| Data sharing in the undiagnosed diseases network. | Brownstein CA, Holm IA, Ramoni R, Goldstein DB, Members of the Undiagnosed Diseases Network | Human mutation | 26220576 | Hum Mutat | 2015 Oct |
| GABRG2 Variants Associated with Febrile Seizures. | Hernandez CC, Shen Y, Hu N, Shen W, Narayanan V, Ramsey K, He W, Zou L, Macdonald RL | Biomolecules | 36979350 | Biomolecules | 2023 Feb 22 |
| The frontiers of sequencing in undiagnosed neurodevelopmental diseases. | Lee H, Nelson SF | Current opinion in genetics & development | 32599523 | Curr Opin Genet Dev | 2020 Dec |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA | Brain : a journal of neurology | 33150406 | Brain | 2020 Dec 5 |
| An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. | Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Undiagnosed Diseases Network, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM | Genetics in medicine : official journal of the American College of Medical Genetics | 33239752 | Genet Med | 2021 Apr |
| De novo variants in DENND5B cause a neurodevelopmental disorder. | Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Undiagnosed Diseases Network, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F | American journal of human genetics | 38387458 | Am J Hum Genet | 2024 Mar 7 |
| Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. | Macnamara EF, Schoch K, Glanton E, Fieg E, Brokamp E, Undiagnosed Diseases Network, Signer R, LeBlanc K, McConkie-Rosell A, Palmer CGS | Journal of genetic counseling | 30680851 | J Genet Couns | 2019 Apr |
| Novel NUDT2 variant causes intellectual disability and polyneuropathy. | Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK | Annals of clinical and translational neurology | 33058507 | Ann Clin Transl Neurol | 2020 Nov |
| The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. | Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR, Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 38967101 | Genet Med | 2024 Oct |
| Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? | McConkie-Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang YH, Cope H, Undiagnosed Diseases Network, Palmer C, Shashi V | Journal of genetic counseling | 29297108 | J Genet Couns | 2018 Aug |
| Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. | Studwell CM, Glanton E, Undiagnosed Diseases Network, Sinsheimer JS, Palmer CGS, LeBlanc K | Journal of genetic counseling | 33108040 | J Genet Couns | 2021 Apr |
| Continuing a search for a diagnosis: the impact of adolescence and family dynamics. | Miller IM, Yashar BM, Undiagnosed Disease Network, Macnamara EF | Orphanet journal of rare diseases | 36624503 | Orphanet J Rare Dis | 2023 Jan 9 |
| De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. | Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B | American journal of human genetics | 37451268 | Am J Hum Genet | 2023 Aug 3 |
| Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. | Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ | Genetics in medicine : official journal of the American College of Medical Genetics | 38847193 | Genet Med | 2024 Sep |
| Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. | Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA | Molecular genetics & genomic medicine | 26436107 | Mol Genet Genomic Med | 2015 Sep |
| Tissue Specificity of Human Disease Module. | Kitsak M, Sharma A, Menche J, Guney E, Ghiassian SD, Loscalzo J, Barabási AL | Scientific reports | 27748412 | Sci Rep | 2016 Oct 17 |
| Comparison of Protein N-Homocysteinylation in Rat Plasma under Elevated Homocysteine Using a Specific Chemical Labeling Method. | Zang T, Pottenplackel LP, Handy DE, Loscalzo J, Dai S, Deth RC, Zhou ZS, Ma J | Molecules (Basel, Switzerland) | 27617989 | Molecules | 2016 Sep 8 |
| The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine. | MacRae CA, Vasan RS | Circulation | 27324359 | Circulation | 2016 Jun 21 |
| Systems medicine: evolution of systems biology from bench to bedside. | Wang RS, Maron BA, Loscalzo J | Wiley interdisciplinary reviews. Systems biology and medicine | 25891169 | Wiley Interdiscip Rev Syst Biol Med | 2015 Jul-Aug |
| A reference map of the human binary protein interactome. | Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Coté AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovács IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Taşan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP, Calderwood MA | Nature | 32296183 | Nature | 2020 Apr |
| The role of glutathione peroxidase-1 in health and disease. | Handy DE, Loscalzo J | Free radical biology & medicine | 35691509 | Free Radic Biol Med | 2022 Aug 1 |
| De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. | Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Undiagnosed Diseases Network, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J | American journal of human genetics | 32693025 | Am J Hum Genet | 2020 Aug 6 |
| L-2-Hydroxyglutarate Protects Against Cardiac Injury via Metabolic Remodeling. | He H, Mulhern RM, Oldham WM, Xiao W, Lin YD, Liao R, Loscalzo J | Circulation research | 36043417 | Circ Res | 2022 Sep 16 |
| A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. | Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 36205747 | Genet Med | 2022 Oct |
| Target identification among known drugs by deep learning from heterogeneous networks. | Zeng X, Zhu S, Lu W, Liu Z, Huang J, Zhou Y, Fang J, Huang Y, Guo H, Li L, Trapp BD, Nussinov R, Eng C, Loscalzo J, Cheng F | Chemical science | 34123272 | Chem Sci | 2020 Jan 13 |
| Closing the Genotype-Phenotype Loop for Precision Medicine. | MacRae CA, Seidman CE | Circulation | 29038206 | Circulation | 2017 Oct 17 |
| Network-based approach to prediction and population-based validation of in silico drug repurposing. | Cheng F, Desai RJ, Handy DE, Wang R, Schneeweiss S, Barabási AL, Loscalzo J | Nature communications | 30002366 | Nat Commun | 2018 Jul 12 |
| GAPDH inhibits intracellular pathways during starvation for cellular energy homeostasis. | Yang JS, Hsu JW, Park SY, Li J, Oldham WM, Beznoussenko GV, Mironov AA, Loscalzo J, Hsu VW | Nature | 30209366 | Nature | 2018 Sep |
| Network Analysis to Risk Stratify Patients With Exercise Intolerance. | Oldham WM, Oliveira RKF, Wang RS, Opotowsky AR, Rubins DM, Hainer J, Wertheim BM, Alba GA, Choudhary G, Tornyos A, MacRae CA, Loscalzo J, Leopold JA, Waxman AB, Olschewski H, Kovacs G, Systrom DM, Maron BA | Circulation research | 29437835 | Circ Res | 2018 Mar 16 |
| Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases. | Wang RS, Maron BA, Loscalzo J | Arteriosclerosis, thrombosis, and vascular biology | 36794589 | Arterioscler Thromb Vasc Biol | 2023 Apr |
| Expression of CD70 Modulates Nitric Oxide and Redox Status in Endothelial Cells. | Pandey AK, Waldeck-Weiermair M, Wells QS, Xiao W, Yadav S, Eroglu E, Michel T, Loscalzo J | Arteriosclerosis, thrombosis, and vascular biology | 35924558 | Arterioscler Thromb Vasc Biol | 2022 Sep |
| Metabolic Responses to Reductive Stress. | Xiao W, Loscalzo J | Antioxidants & redox signaling | 31218894 | Antioxid Redox Signal | 2020 Jun |
| Epigenetic Inheritance Underlying Pulmonary Arterial Hypertension. | Napoli C, Benincasa G, Loscalzo J | Arteriosclerosis, thrombosis, and vascular biology | 30727752 | Arterioscler Thromb Vasc Biol | 2019 Apr |
| Illuminating drug action by network integration of disease genes: a case study of myocardial infarction. | Wang RS, Loscalzo J | Molecular bioSystems | 27004607 | Mol Biosyst | 2016 Apr 26 |
| A genome-wide positioning systems network algorithm for in silico drug repurposing. | Cheng F, Lu W, Liu C, Fang J, Hou Y, Handy DE, Wang R, Zhao Y, Yang Y, Huang J, Hill DE, Vidal M, Eng C, Loscalzo J | Nature communications | 31375661 | Nat Commun | 2019 Aug 2 |
| The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. | Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC, MedSeq Project | Annals of internal medicine | 28654958 | Ann Intern Med | 2017 Aug 1 |
| Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. | Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A, Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46, Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P | Science (New York, N.Y.) | 38662826 | Science | 2024 Apr 26 |
| Multi-Omics and Single-Cell Omics: New Tools in Drug Target Discovery. | Loscalzo J | Arteriosclerosis, thrombosis, and vascular biology | 38536899 | Arterioscler Thromb Vasc Biol | 2024 Apr |
| Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes. | Maron BA, Wang RS, Shevtsov S, Drakos SG, Arons E, Wever-Pinzon O, Huggins GS, Samokhin AO, Oldham WM, Aguib Y, Yacoub MH, Rowin EJ, Maron BJ, Maron MS, Loscalzo J | Nature communications | 33558530 | Nat Commun | 2021 Feb 8 |
| Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy: JACC Review Topic of the Week. | Maron BJ, Maron MS, Maron BA, Loscalzo J | Journal of the American College of Cardiology | 31000001 | J Am Coll Cardiol | 2019 Apr 23 |
| Repurposing Drugs for the Treatment of COVID-19 and Its Cardiovascular Manifestations. | Wang RS, Loscalzo J | Circulation research | 37167362 | Circ Res | 2023 May 12 |
| Genomic sequencing in clinical practice: applications, challenges, and opportunities. | Krier JB, Kalia SS, Green RC | Dialogues in clinical neuroscience | 27757064 | Dialogues Clin Neurosci | 2016 Sep |
| Efficient Computational Modeling of Human Ventricular Activation and Its Electrocardiographic Representation: A Sensitivity Study. | Cranford JP, O'Hara TJ, Villongco CT, Hafez OM, Blake RC, Loscalzo J, Fattebert JL, Richards DF, Zhang X, Glosli JN, McCulloch AD, Krummen DE, Lightstone FC, Wong SE | Cardiovascular engineering and technology | 29549620 | Cardiovasc Eng Technol | 2018 Sep |
| Network-Based Disease Module Discovery by a Novel Seed Connector Algorithm with Pathobiological Implications. | Wang RS, Loscalzo J | Journal of molecular biology | 29791871 | J Mol Biol | 2018 Sep 14 |
| Nutri(meta)genetics and cardiovascular disease: novel concepts in the interaction of diet and genomic variation. | Joseph J, Loscalzo J | Current atherosclerosis reports | 25782777 | Curr Atheroscler Rep | 2015 May |
| The application of big data to cardiovascular disease: paths to precision medicine. | Leopold JA, Maron BA, Loscalzo J | The Journal of clinical investigation | 31895052 | J Clin Invest | 2020 Jan 2 |
| Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma. | Wang RS, Croteau-Chonka DC, Silverman EK, Loscalzo J, Weiss ST, Hall KT | Clinical pharmacology and therapeutics | 31557306 | Clin Pharmacol Ther | 2019 Dec |
| Analysis of redox landscapes and dynamics in living cells and in vivo using genetically encoded fluorescent sensors. | Zou Y, Wang A, Shi M, Chen X, Liu R, Li T, Zhang C, Zhang Z, Zhu L, Ju Z, Loscalzo J, Yang Y, Zhao Y | Nature protocols | 30258175 | Nat Protoc | 2018 Oct |
| An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. | Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM) | NPJ genomic medicine | 30131872 | NPJ Genom Med | 2018 |
| The Undiagnosed Diseases Network as a Tool for Graduate Medical Education. | Aday AW, Krier JB, Pallais JC, Fieg EL, MacRae CA, Loscalzo J, Members of the UDN | The American journal of medicine | 31301294 | Am J Med | 2020 Feb |
| COVID-19 and Cardiovascular Disease: From Bench to Bedside. | Chung MK, Zidar DA, Bristow MR, Cameron SJ, Chan T, Harding CV 3rd, Kwon DH, Singh T, Tilton JC, Tsai EJ, Tucker NR, Barnard J, Loscalzo J | Circulation research | 33856918 | Circ Res | 2021 Apr 16 |
| Early-pregnancy transcriptome signatures of preeclampsia: from peripheral blood to placenta. | Yadama AP, Maiorino E, Carey VJ, McElrath TF, Litonjua AA, Loscalzo J, Weiss ST, Mirzakhani H | Scientific reports | 33046794 | Sci Rep | 2020 Oct 12 |
| Importance of scientific collaboration in contemporary drug discovery and development: a detailed network analysis. | Cheng F, Ma Y, Uzzi B, Loscalzo J | BMC biology | 33050894 | BMC Biol | 2020 Oct 13 |
| A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. | Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK | Journal of inherited metabolic disease | 35621276 | J Inherit Metab Dis | 2022 Sep |
| A crosslinked dextran sulfate-chitosan nanoparticle for delivery of therapeutic heparin-binding proteins. | Guarino VA, Blau A, Alvarenga J, Loscalzo J, Zhang YY | International journal of pharmaceutics | 34775044 | Int J Pharm | 2021 Dec 15 |
| A systematic comprehensive longitudinal evaluation of dietary factors associated with acute myocardial infarction and fatal coronary heart disease. | Milanlouei S, Menichetti G, Li Y, Loscalzo J, Willett WC, Barabási AL | Nature communications | 33247093 | Nat Commun | 2020 Nov 27 |
| A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets. | Li X, Lee EJ, Lilja S, Loscalzo J, Schäfer S, Smelik M, Strobl MR, Sysoev O, Wang H, Zhang H, Zhao Y, Gawel DR, Bohle B, Benson M | Genome medicine | 35513850 | Genome Med | 2022 May 6 |
| Network medicine framework for identifying drug-repurposing opportunities for COVID-19. | Morselli Gysi D, do Valle Í, Zitnik M, Ameli A, Gan X, Varol O, Ghiassian SD, Patten JJ, Davey RA, Loscalzo J, Barabási AL | Proceedings of the National Academy of Sciences of the United States of America | 33906951 | Proc Natl Acad Sci U S A | 2021 May 11 |
| Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. | Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ | eLife | 38079206 | Elife | 2023 Dec 11 |
| Disease networks. Uncovering disease-disease relationships through the incomplete interactome. | Menche J, Sharma A, Kitsak M, Ghiassian SD, Vidal M, Loscalzo J, Barabási AL | Science (New York, N.Y.) | 25700523 | Science | 2015 Feb 20 |
| Genetically encoded fluorescent sensors reveal dynamic regulation of NADPH metabolism. | Tao R, Zhao Y, Chu H, Wang A, Zhu J, Chen X, Zou Y, Shi M, Liu R, Su N, Du J, Zhou HM, Zhu L, Qian X, Liu H, Loscalzo J, Yang Y | Nature methods | 28581494 | Nat Methods | 2017 Jul |
| Emerging Role of Precision Medicine in Cardiovascular Disease. | Leopold JA, Loscalzo J | Circulation research | 29700074 | Circ Res | 2018 Apr 27 |
| An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. | Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL, Brigham Genomic Medicine, Vuzman D | Rheumatology (Oxford, England) | 26493744 | Rheumatology (Oxford) | 2016 Mar |
| Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. | Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C, Members of the Undiagnosed Diseases Network, Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D | Journal of neurogenetics | 28460589 | J Neurogenet | 2017 Mar-Jun |
| MYC overrides HIF-1α to regulate proliferating primary cell metabolism in hypoxia. | Copeland CA, Olenchock BA, Ziehr D, McGarrity S, Leahy K, Young JD, Loscalzo J, Oldham WM | eLife | 37428010 | Elife | 2023 Jul 10 |
| Phenomics and Robust Multiomics Data for Cardiovascular Disease Subtyping. | Maiorino E, Loscalzo J | Arteriosclerosis, thrombosis, and vascular biology | 37226730 | Arterioscler Thromb Vasc Biol | 2023 Jul |
| Assessment of community efforts to advance network-based prediction of protein-protein interactions. | Wang XW, Madeddu L, Spirohn K, Martini L, Fazzone A, Becchetti L, Wytock TP, Kovács IA, Balogh OM, Benczik B, Pétervári M, Ágg B, Ferdinandy P, Vulliard L, Menche J, Colonnese S, Petti M, Scarano G, Cuomo F, Hao T, Laval F, Willems L, Twizere JC, Vidal M, Calderwood MA, Petrillo E, Barabási AL, Silverman EK, Loscalzo J, Velardi P, Liu YY | Nature communications | 36949045 | Nat Commun | 2023 Mar 22 |
| Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. | Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ | medRxiv : the preprint server for health sciences | 37502976 | medRxiv | 2023 Oct 2 |
| Network Medicine Framework for Identifying Drug Repurposing Opportunities for COVID-19. | Morselli Gysi D, Do Valle Í, Zitnik M, Ameli A, Gan X, Varol O, Ghiassian SD, Patten JJ, Davey R, Loscalzo J, Barabási AL | ArXiv | 32550253 | ArXiv | 2020 Apr 15 |
| Network determinants of cardiovascular calcification and repositioned drug treatments. | Song E, Wang RS, Leopold JA, Loscalzo J | FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 32638415 | FASEB J | 2020 Aug |
| A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. | Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG, Undiagnosed Diseases Network, Phillips JA, Komatsu M, Sweetser DA | Cold Spring Harbor molecular case studies | 33811063 | Cold Spring Harb Mol Case Stud | 2021 Jun |
| Comprehensive characterization of protein-protein interactions perturbed by disease mutations. | Cheng F, Zhao J, Wang Y, Lu W, Liu Z, Zhou Y, Martin WR, Wang R, Huang J, Hao T, Yue H, Ma J, Hou Y, Castrillon JA, Fang J, Lathia JD, Keri RA, Lightstone FC, Antman EM, Rabadan R, Hill DE, Eng C, Vidal M, Loscalzo J | Nature genetics | 33558758 | Nat Genet | 2021 Mar |
| Piezo mechanosensory channels regulate centrosome integrity and mitotic entry. | David L, Martinez L, Xi Q, Kooshesh KA, Zhang Y, Shah JV, Maas RL, Wu H | Proceedings of the National Academy of Sciences of the United States of America | 36574677 | Proc Natl Acad Sci U S A | 2023 Jan 3 |
| A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome. | Lino Cardenas CL, Briere LC, Sweetser DA, Lindsay ME, Musolino PL | The Journal of clinical investigation | 36649075 | J Clin Invest | 2023 Mar 1 |
| De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. | Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M | American journal of human genetics | 31585109 | Am J Hum Genet | 2019 Oct 3 |
| Ultrasensitive sensors reveal the spatiotemporal landscape of lactate metabolism in physiology and disease. | Li X, Zhang Y, Xu L, Wang A, Zou Y, Li T, Huang L, Chen W, Liu S, Jiang K, Zhang X, Wang D, Zhang L, Zhang Z, Zhang Z, Chen X, Jia W, Zhao A, Yan X, Zhou H, Zhu L, Ma X, Ju Z, Jia W, Wang C, Loscalzo J, Yang Y, Zhao Y | Cell metabolism | 36309010 | Cell Metab | 2023 Jan 3 |
| Molecular networks in Network Medicine: Development and applications. | Silverman EK, Schmidt HHHW, Anastasiadou E, Altucci L, Angelini M, Badimon L, Balligand JL, Benincasa G, Capasso G, Conte F, Di Costanzo A, Farina L, Fiscon G, Gatto L, Gentili M, Loscalzo J, Marchese C, Napoli C, Paci P, Petti M, Quackenbush J, Tieri P, Viggiano D, Vilahur G, Glass K, Baumbach J | Wiley interdisciplinary reviews. Systems biology and medicine | 32307915 | Wiley Interdiscip Rev Syst Biol Med | 2020 Nov |
| Precision Medicine. | Loscalzo J | Circulation research | 30920923 | Circ Res | 2019 Mar 29 |
| Identification of potent inhibitors of SARS-CoV-2 infection by combined pharmacological evaluation and cellular network prioritization. | Patten JJ, Keiser PT, Morselli-Gysi D, Menichetti G, Mori H, Donahue CJ, Gan X, Valle ID, Geoghegan-Barek K, Anantpadma M, Boytz R, Berrigan JL, Stubbs SH, Ayazika T, O'Leary C, Jalloh S, Wagner F, Ayehunie S, Elledge SJ, Anderson D, Loscalzo J, Zitnik M, Gummuluru S, Namchuk MN, Barabási AL, Davey RA | iScience | 35992305 | iScience | 2022 Sep 16 |
| A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. | Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 35482014 | Genet Med | 2022 Jul |
| Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. | Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH, Undiagnosed Diseases Network (UDN), McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL | Annals of neurology | 34185323 | Ann Neurol | 2021 Aug |
| Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery. | Halu A, Chelvanambi S, Decano JL, Matamalas JT, Whelan M, Asano T, Kalicharran N, Singh SA, Loscalzo J, Aikawa M | Genome medicine | 39833831 | Genome Med | 2025 Jan 20 |
| Genomics in medicine: a novel elective rotation for internal medicine residents. | Geng LN, Kohler JN, Levonian P, Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M | Postgraduate medical journal | 31439813 | Postgrad Med J | 2019 Oct |
| Drug-Placebo Additivity in Randomized Clinical Trials. | Hall KT, Loscalzo J | Clinical pharmacology and therapeutics | 31502253 | Clin Pharmacol Ther | 2019 Dec |
| Fine-Tuning of PGC1α Expression Regulates Cardiac Function and Longevity. | Zhu X, Shen W, Yao K, Wang H, Liu B, Li T, Song L, Diao D, Mao G, Huang P, Li C, Zhang H, Zou Y, Qiu Y, Zhao Y, Wang W, Yang Y, Hu Z, Auwerx J, Loscalzo J, Zhou Y, Ju Z | Circulation research | 31412728 | Circ Res | 2019 Sep 13 |
| Immunometabolic Endothelial Phenotypes: Integrating Inflammation and Glucose Metabolism. | Xiao W, Oldham WM, Priolo C, Pandey AK, Loscalzo J | Circulation research | 33890812 | Circ Res | 2021 Jun 25 |
| NEDD9 Is a Novel and Modifiable Mediator of Platelet-Endothelial Adhesion in the Pulmonary Circulation. | Alba GA, Samokhin AO, Wang RS, Zhang YY, Wertheim BM, Arons E, Greenfield EA, Lundberg Slingsby MH, Ceglowski JR, Haley KJ, Bowman FP, Yu YR, Haney JC, Eng G, Mitchell RN, Sheets A, Vargas SO, Seo S, Channick RN, Leary PJ, Rajagopal S, Loscalzo J, Battinelli EM, Maron BA | American journal of respiratory and critical care medicine | 33523764 | Am J Respir Crit Care Med | 2021 Jun 15 |
| Adaptions to Hypoxia and Redox Stress: Essential Concepts Confounded by Misleading Terminology. | Loscalzo J | Circulation research | 27492841 | Circ Res | 2016 Aug 5 |
| Genetic Misdiagnoses and the Potential for Health Disparities. | Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS | The New England journal of medicine | 27532831 | N Engl J Med | 2016 Aug 18 |
| Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration. | Triebwasser MP, Roberson ED, Yu Y, Schramm EC, Wagner EK, Raychaudhuri S, Seddon JM, Atkinson JP | Investigative ophthalmology & visual science | 26501415 | Invest Ophthalmol Vis Sci | 2015 Oct |
| Network Medicine in Pathobiology. | Lee LY, Loscalzo J | The American journal of pathology | 31014954 | Am J Pathol | 2019 Jul |
| The Matchmaker Exchange: a platform for rare disease gene discovery. | Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL | Human mutation | 26295439 | Hum Mutat | 2015 Oct |
| novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data. | Mohanty AK, Vuzman D, Francioli L, Cassa C, Brigham Genomic Medicine, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Toth-Petroczy A, Sunyaev S | Bioinformatics (Oxford, England) | 30169785 | Bioinformatics | 2019 Apr 1 |
| Systems Biology Approaches to Redox Metabolism in Stress and Disease States. | Wang RS, Oldham WM, Maron BA, Loscalzo J | Antioxidants & redox signaling | 29121773 | Antioxid Redox Signal | 2018 Oct 1 |
| MicroRNA Dysregulation in Pulmonary Arteries from Chronic Obstructive Pulmonary Disease. Relationships with Vascular Remodeling. | Musri MM, Coll-Bonfill N, Maron BA, Peinado VI, Wang RS, Altirriba J, Blanco I, Oldham WM, Tura-Ceide O, García-Lucio J, de la Cruz-Thea B, Meister G, Loscalzo J, Barberà JA | American journal of respiratory cell and molecular biology | 29757677 | Am J Respir Cell Mol Biol | 2018 Oct |
| Responses to reductive stress in the cardiovascular system. | Handy DE, Loscalzo J | Free radical biology & medicine | 27940350 | Free Radic Biol Med | 2017 Aug |
| Endophenotype Network Models: Common Core of Complex Diseases. | Ghiassian SD, Menche J, Chasman DI, Giulianini F, Wang R, Ricchiuto P, Aikawa M, Iwata H, Müller C, Zeller T, Sharma A, Wild P, Lackner K, Singh S, Ridker PM, Blankenberg S, Barabási AL, Loscalzo J | Scientific reports | 27278246 | Sci Rep | 2016 Jun 9 |
| Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. | Wagner EK, Raychaudhuri S, Villalonga MB, Java A, Triebwasser MP, Daly MJ, Atkinson JP, Seddon JM | Scientific reports | 27572114 | Sci Rep | 2016 Aug 30 |
| Interferon-γ Impairs Human Coronary Artery Endothelial Glucose Metabolism by Tryptophan Catabolism and Activates Fatty Acid Oxidation. | Lee LY, Oldham WM, He H, Wang R, Mulhern R, Handy DE, Loscalzo J | Circulation | 34636650 | Circulation | 2021 Nov 16 |
| What Causes Hypertrophic Cardiomyopathy? | Maron BA, Wang RS, Carnethon MR, Rowin EJ, Loscalzo J, Maron BJ, Maron MS | The American journal of cardiology | 35843734 | Am J Cardiol | 2022 Sep 15 |
| Illuminating NAD(+) Metabolism in Live Cells and In Vivo Using a Genetically Encoded Fluorescent Sensor. | Zou Y, Wang A, Huang L, Zhu X, Hu Q, Zhang Y, Chen X, Li F, Wang Q, Wang H, Liu R, Zuo F, Li T, Yao J, Qian Y, Shi M, Yue X, Chen W, Zhang Z, Wang C, Zhou Y, Zhu L, Ju Z, Loscalzo J, Yang Y, Zhao Y | Developmental cell | 32197067 | Dev Cell | 2020 Apr 20 |
| Comprehensive network medicine-based drug repositioning via integration of therapeutic efficacy and side effects. | Paci P, Fiscon G, Conte F, Wang RS, Handy DE, Farina L, Loscalzo J | NPJ systems biology and applications | 35443763 | NPJ Syst Biol Appl | 2022 Apr 20 |
| De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues. | Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS | Human genetics | 37198333 | Hum Genet | 2023 Jul |
| Hhex is Required at Multiple Stages of Adult Hematopoietic Stem and Progenitor Cell Differentiation. | Goodings C, Smith E, Mathias E, Elliott N, Cleveland SM, Tripathi RM, Layer JH, Chen X, Guo Y, Shyr Y, Hamid R, Du Y, Davé UP | Stem cells (Dayton, Ohio) | 25968920 | Stem Cells | 2015 Aug |
| Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease. | Kropski JA, Pritchett JM, Zoz DF, Crossno PF, Markin C, Garnett ET, Degryse AL, Mitchell DB, Polosukhin VV, Rickman OB, Choi L, Cheng DS, McConaha ME, Jones BR, Gleaves LA, McMahon FB, Worrell JA, Solus JF, Ware LB, Lee JW, Massion PP, Zaynagetdinov R, White ES, Kurtis JD, Johnson JE, Groshong SD, Lancaster LH, Young LR, Steele MP, Phillips Iii JA, Cogan JD, Loyd JE, Lawson WE, Blackwell TS | American journal of respiratory and critical care medicine | 25389906 | Am J Respir Crit Care Med | 2015 Feb 15 |
| Rare variants in RTEL1 are associated with familial interstitial pneumonia. | Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS | American journal of respiratory and critical care medicine | 25607374 | Am J Respir Crit Care Med | 2015 Mar 15 |
| Health Supervision for People With Achondroplasia. | Hoover-Fong J, Scott CI, Jones MC, COMMITTEE ON GENETICS | Pediatrics | 32457214 | Pediatrics | 2020 Jun |
| Rapid resolution of hyperammonemia in neonates using extracorporeal membrane oxygenation as a platform to drive hemodialysis. | Robinson JR, Conroy PC, Hardison D, Hamid R, Grubb PH, Pietsch JB, Lovvorn HN 3rd | Journal of perinatology : official journal of the California Perinatal Association | 29467521 | J Perinatol | 2018 Jun |
| Health Care Supervision for Children With Williams Syndrome. | Morris CA, Braddock SR, COUNCIL ON GENETICS | Pediatrics | 31964759 | Pediatrics | 2020 Feb |
| Limitations of exome sequencing in detecting rare and undiagnosed diseases. | Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd, Undiagnosed Diseases Network | American journal of medical genetics. Part A | 32190976 | Am J Med Genet A | 2020 Jun |
| Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. | Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J, Undiagnosed Diseases Network (UDN), Moore SA, Hamid R, Members of the Undiagnosed Diseases Network | Clinical imaging | 31299614 | Clin Imaging | 2019 Nov-Dec |
| Mitochondrial NADP(+) is essential for proline biosynthesis during cell growth. | Tran DH, Kesavan R, Rion H, Soflaee MH, Solmonson A, Bezwada D, Vu HS, Cai F, Phillips JA 3rd, DeBerardinis RJ, Hoxhaj G | Nature metabolism | 33833463 | Nat Metab | 2021 Apr |
| One is the loneliest number: genotypic matchmaking using the electronic health record. | Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L, Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 34230636 | Genet Med | 2021 Oct |
| A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male. | DeBalsi KL, Newman JH, Sommerville LJ, Phillips JA 3rd, Hamid R, Cogan J, Fessel JP, Evans AM, Undiagnosed Diseases Network, Undiagnosed Diseases Network, Kennedy AD | Metabolites | 36984839 | Metabolites | 2023 Mar 8 |
| Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers. | Gu M, Shao NY, Sa S, Li D, Termglinchan V, Ameen M, Karakikes I, Sosa G, Grubert F, Lee J, Cao A, Taylor S, Ma Y, Zhao Z, Chappell J, Hamid R, Austin ED, Gold JD, Wu JC, Snyder MP, Rabinovitch M | Cell stem cell | 28017794 | Cell Stem Cell | 2017 Apr 6 |
| Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension. | Newman JH, Holt TN, Cogan JD, Womack B, Phillips JA 3rd, Li C, Kendall Z, Stenmark KR, Thomas MG, Brown RD, Riddle SR, West JD, Hamid R | Nature communications | 25873470 | Nat Commun | 2015 Apr 15 |
| Y Not? Sex Chromosomes May Modify Sexual Dimorphism in Pulmonary Hypertension. | Austin ED, Hamid R | American journal of respiratory and critical care medicine | 28968140 | Am J Respir Crit Care Med | 2018 Apr 1 |
| Health Supervision for Children and Adolescents With Down Syndrome. | Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW, COUNCIL ON GENETICS, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P | Pediatrics | 35490285 | Pediatrics | 2022 May 1 |
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| Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. | Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL | Cold Spring Harbor molecular case studies | 28864461 | Cold Spring Harb Mol Case Stud | 2017 Sep |
| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L, Undiagnosed Diseases Network, Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR | American journal of human genetics | 37467750 | Am J Hum Genet | 2023 Aug 3 |
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| A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. | Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau GA, Brown RH Jr, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB | Genome research | 30940688 | Genome Res | 2019 May |
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| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. | Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB, Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 29907797 | Genet Med | 2019 Jan |
| Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. | Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Undiagnosed Diseases Network, Shashi V, Pena LDM | Cold Spring Harbor molecular case studies | 29970384 | Cold Spring Harb Mol Case Stud | 2018 Oct |
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| A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. | Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Undiagnosed Diseases Network, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG | European journal of human genetics : EJHG | 32901138 | Eur J Hum Genet | 2021 Feb |
| Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. | Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM | Journal of inherited metabolic disease | 32588908 | J Inherit Metab Dis | 2020 Nov |
| T cell-depleted cultured pediatric thymus tissue as a model for some aspects of human age-related thymus involution. | Hale LP, Cheatham L, Macintyre AN, LaFleur B, Sanders B, Troy J, Kurtzberg J, Sempowski GD | GeroScience | 33420705 | Geroscience | 2021 Jun |
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| Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. | McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Undiagnosed Diseases Network, Hooper SR, Shashi V | Journal of genetic counseling | 37005744 | J Genet Couns | 2023 Oct |
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| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. | Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Undiagnosed Diseases Network, Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN | Nature genetics | 34211179 | Nat Genet | 2021 Jul |
| Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis. | Sato MS, Kyriakopoulos M, James A, Marwedel S, Borsay C, Gutierrez AA, Blakemore AI, Need AC | Psychiatric genetics | 32404617 | Psychiatr Genet | 2020 Jun |
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| Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. | Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA, Undiagnosed Diseases Network, Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B | American journal of human genetics | 35051358 | Am J Hum Genet | 2022 Feb 3 |
| Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. | Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V, Undiagnosed Diseases Network, Ast G, Shashi V, Fahey MC, Battaloğlu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H | American journal of human genetics | 35108495 | Am J Hum Genet | 2022 Mar 3 |
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