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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1971 1
1972 1
1976 2
1978 1
1979 1
1980 1
1982 1
1983 4
1984 1
1985 3
1986 1
1991 8
1992 1
1993 2
1994 1
2001 1
2003 2
2004 3
2006 3
2007 3
2008 4
2009 7
2010 4
2011 4
2012 2
2013 5
2014 10
2015 11
2016 10
2017 10
2018 8
2019 10
2020 6
2021 5
2022 4
2023 6
2024 1

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128 results

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Page 1
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: gibson wt. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
EED-Related Overgrowth.
Sequerra Amram Cohen A, Gibson WT. Sequerra Amram Cohen A, et al. Among authors: gibson wt. 2019 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30973693 Free Books & Documents. Review.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: gibson wt. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. Among authors: gibson wt. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Activation of β-catenin in mesenchymal progenitors leads to muscle mass loss.
Kajabadi N, Low M, Jacques E, Lad H, Tung LW, Babaeijandaghi F, Gamu D, Zelada D, Wong CK, Chang C, Yi L, Wosczyna MN, Rando TA, Henríquez JP, Gibson WT, Gilbert PM, Rossi FMV. Kajabadi N, et al. Among authors: gibson wt. Dev Cell. 2023 Mar 27;58(6):489-505.e7. doi: 10.1016/j.devcel.2023.02.009. Epub 2023 Mar 9. Dev Cell. 2023. PMID: 36898377 Free article.
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders.
López-Tobón A, Shyti R, Villa CE, Cheroni C, Fuentes-Bravo P, Trattaro S, Caporale N, Troglio F, Tenderini E, Mihailovich M, Skaros A, Gibson WT, Cuomo A, Bonaldi T, Mercurio C, Varasi M, Osborne L, Testa G. López-Tobón A, et al. Among authors: gibson wt. Sci Adv. 2023 Dec;9(48):eadh2726. doi: 10.1126/sciadv.adh2726. Epub 2023 Nov 29. Sci Adv. 2023. PMID: 38019906 Free PMC article.
Rare diseases of epigenetic origin: Challenges and opportunities.
Fu MP, Merrill SM, Sharma M, Gibson WT, Turvey SE, Kobor MS. Fu MP, et al. Among authors: gibson wt. Front Genet. 2023 Feb 6;14:1113086. doi: 10.3389/fgene.2023.1113086. eCollection 2023. Front Genet. 2023. PMID: 36814905 Free PMC article. Review.
A systematic review of genetic syndromes with obesity.
Kaur Y, de Souza RJ, Gibson WT, Meyre D. Kaur Y, et al. Among authors: gibson wt. Obes Rev. 2017 Jun;18(6):603-634. doi: 10.1111/obr.12531. Epub 2017 Mar 27. Obes Rev. 2017. PMID: 28346723 Review.
128 results