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Year Number of Results
1985 4
1986 2
1987 2
1988 3
1989 2
1991 2
1992 1
1993 1
1994 3
1995 2
1996 3
1999 1
2000 1
2001 1
2002 2
2004 1
2006 2
2007 1
2008 3
2009 3
2010 2
2011 3
2012 5
2013 1
2014 4
2015 7
2016 5
2017 5
2018 7
2019 14
2020 15
2021 30
2022 25
2023 30
2024 32
2025 3

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199 results

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Page 1
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. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.
Jacob A, Morley M, Hawkins F, McCauley KB, Jean JC, Heins H, Na CL, Weaver TE, Vedaie M, Hurley K, Hinds A, Russo SJ, Kook S, Zacharias W, Ochs M, Traber K, Quinton LJ, Crane A, Davis BR, White FV, Wambach J, Whitsett JA, Cole FS, Morrisey EE, Guttentag SH, Beers MF, Kotton DN. Jacob A, et al. Among authors: wambach j. Cell Stem Cell. 2017 Oct 5;21(4):472-488.e10. doi: 10.1016/j.stem.2017.08.014. Epub 2017 Sep 28. Cell Stem Cell. 2017. PMID: 28965766 Free PMC article.
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. Dodd DO, et al. Among authors: wambach ja. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
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. Tepe B, et al. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
Guo M, Wikenheiser-Brokamp KA, Kitzmiller JA, Jiang C, Wang G, Wang A, Preissl S, Hou X, Buchanan J, Karolak JA, Miao Y, Frank DB, Zacharias WJ, Sun X, Xu Y, Gu M, Stankiewicz P, Kalinichenko VV, Wambach JA, Whitsett JA. Guo M, et al. Among authors: wambach ja. Am J Respir Crit Care Med. 2023 Sep 15;208(6):709-725. doi: 10.1164/rccm.202210-2015OC. Am J Respir Crit Care Med. 2023. PMID: 37463497 Free PMC article.
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. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
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. Paul MS, et al. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735 Free PMC article.
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.
Alysandratos KD, Russo SJ, Petcherski A, Taddeo EP, Acín-Pérez R, Villacorta-Martin C, Jean JC, Mulugeta S, Rodriguez LR, Blum BC, Hekman RM, Hix OT, Minakin K, Vedaie M, Kook S, Tilston-Lunel AM, Varelas X, Wambach JA, Cole FS, Hamvas A, Young LR, Liesa M, Emili A, Guttentag SH, Shirihai OS, Beers MF, Kotton DN. Alysandratos KD, et al. Among authors: wambach ja. Cell Rep. 2021 Aug 31;36(9):109636. doi: 10.1016/j.celrep.2021.109636. Cell Rep. 2021. PMID: 34469722 Free PMC article.
199 results