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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: leal sm. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
The genetic contribution of the X chromosome in age-related hearing loss.
Naderi E, Cornejo-Sanchez DM, Li G, Schrauwen I, Wang GT, Dewan AT, Leal SM. Naderi E, et al. Among authors: leal sm. Front Genet. 2023 Feb 21;14:1106328. doi: 10.3389/fgene.2023.1106328. eCollection 2023. Front Genet. 2023. PMID: 36896235 Free PMC article.
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Esterhuizen AI, et al. Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8. Genet Med. 2023. PMID: 36480001 Free article.
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. 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.
Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.
Young KL, Fisher V, Deng X, Brody JA, Graff M, Lim E, Lin BM, Xu H, Amin N, An P, Aslibekyan S, Fohner AE, Hidalgo B, Lenzini P, Kraaij R, Medina-Gomez C, Prokić I, Rivadeneira F, Sitlani C, Tao R, van Rooij J, Zhang D, Broome JG, Buth EJ, Heavner BD, Jain D, Smith AV, Barnes K, Boorgula MP, Chavan S, Darbar D, De Andrade M, Guo X, Haessler J, Irvin MR, Kalyani RR, Kardia SLR, Kooperberg C, Kim W, Mathias RA, McDonald ML, Mitchell BD, Peyser PA, Regan EA, Redline S, Reiner AP, Rich SS, Rotter JI, Smith JA, Weiss S, Wiggins KL, Yanek LR, Arnett D, Heard-Costa NL, Leal S, Lin D, McKnight B, Province M, van Duijn CM, North KE, Cupples LA, Liu CT. Young KL, et al. HGG Adv. 2022 Nov 25;4(1):100163. doi: 10.1016/j.xhgg.2022.100163. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36568030 Free PMC article.
401 results