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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. Pujol-Giménez J, et al. Among authors: hing a. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Syndromic craniosynostosis: from history to hydrogen bonds.
Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV. Cunningham ML, et al. Orthod Craniofac Res. 2007 May;10(2):67-81. doi: 10.1111/j.1601-6343.2007.00389.x. Orthod Craniofac Res. 2007. PMID: 17552943 Review.
Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research.
Heike CL, Hing AV, Aspinall CA, Bartlett SP, Birgfeld CB, Drake AF, Pimenta LA, Sie KC, Urata MM, Vivaldi D, Luquetti DV. Heike CL, et al. Among authors: hing av. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):271-82. doi: 10.1002/ajmg.c.31373. Epub 2013 Oct 16. Am J Med Genet C Semin Med Genet. 2013. PMID: 24132932 Review.
Chromosome abnormalities in congenital heart disease.
Johnson MC, Hing A, Wood MK, Watson MS. Johnson MC, et al. Among authors: hing a. Am J Med Genet. 1997 Jun 13;70(3):292-8. doi: 10.1002/(sici)1096-8628(19970613)70:3<292::aid-ajmg15>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9188669
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Belloni E, et al. Among authors: hing av. Nat Genet. 1996 Nov;14(3):353-6. doi: 10.1038/ng1196-353. Nat Genet. 1996. PMID: 8896571
Fetus in fetu: molecular analysis of a fetiform mass.
Hing A, Corteville J, Foglia RP, Bliss DP Jr, Donis-Keller H, Dowton SB. Hing A, et al. Am J Med Genet. 1993 Sep 1;47(3):333-41. doi: 10.1002/ajmg.1320470308. Am J Med Genet. 1993. PMID: 8135277 Review.
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. Jenkins ZA, et al. Among authors: hing av. Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14. Nat Genet. 2009. PMID: 19079258
161 results