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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Among authors: seawright a. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Rainger J, et al. Among authors: seawright a. Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005. Am J Hum Genet. 2014. PMID: 24906020 Free PMC article.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG; UK10K; FitzPatrick DR. Rainger J, et al. Among authors: seawright a. Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28493397 Free PMC article.
PAX6 mutations in aniridia.
Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. Hanson IM, et al. Among authors: seawright a. Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915. Hum Mol Genet. 1993. PMID: 8364574
The human PAX6 gene is mutated in two patients with aniridia.
Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V. Jordan T, et al. Among authors: seawright a. Nat Genet. 1992 Aug;1(5):328-32. doi: 10.1038/ng0892-328. Nat Genet. 1992. PMID: 1302030
Role of Pax6 in development of the cerebellar system.
Engelkamp D, Rashbass P, Seawright A, van Heyningen V. Engelkamp D, et al. Among authors: seawright a. Development. 1999 Aug;126(16):3585-96. doi: 10.1242/dev.126.16.3585. Development. 1999. PMID: 10409504
186 results