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Year Number of Results
1965 1
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1978 1
1982 1
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1988 4
1989 2
1990 2
1991 5
1992 4
1993 3
1994 2
1995 3
1996 4
1997 2
1998 2
2000 4
2001 11
2002 11
2003 12
2004 9
2005 13
2006 12
2007 10
2008 20
2009 20
2010 20
2011 15
2012 16
2013 19
2014 17
2015 20
2016 24
2017 22
2018 18
2019 16
2020 21
2021 29
2022 21
2023 25
2024 24
2025 19
2026 4

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435 results

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Page 1
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: wilke m. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard; Engle EC, Verheijen FW, Doherty D, Mancini GMS. Dobyns WB, et al. Among authors: wilke m. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471716 Free PMC article.
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E. Dogterom EJ, et al. Among authors: wilke m. Genet Med. 2021 Nov;23(11):2047-2056. doi: 10.1038/s41436-021-01244-4. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172897 Free article.
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J; University of Washington Center for Mendelian Genomics; Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT. Guillouet C, et al. Among authors: wilke m. Am J Hum Genet. 2025 Apr 3;112(4):829-845. doi: 10.1016/j.ajhg.2025.02.016. Epub 2025 Mar 12. Am J Hum Genet. 2025. PMID: 40081376 Free PMC article.
A clinical and genotype-phenotype analysis of MACF1 variants.
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. Dekker J, et al. Among authors: wilke m. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. Epub 2025 Sep 8. Am J Hum Genet. 2025. PMID: 40925378
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: wilke m. Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27. Genet Med. 2025. PMID: 39737487 Free article.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: wilke m. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Rena… See abstract for full author list ➔ Sheppard SE, et al. Among authors: wilke m. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Delayed EPPER syndrome.
Gallego H, Crutchfield CE 3rd, Wilke MS, Lewis EJ. Gallego H, et al. Among authors: wilke ms. Arch Dermatol. 2001 Jun;137(6):821-2. Arch Dermatol. 2001. PMID: 11405782 No abstract available.
435 results