日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

SOX11 变异会导致神经发育障碍,伴有罕见的眼部畸形和促性腺激素功能低下症,以及独特的 DNA 甲基化特征

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M Reis, Elena V Semina; University of Washington Centre for Mendelian Genomics (UW-CMG); Katherin

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

通过父母外显子组测序诊断致死性或产前发病的常染色体隐性遗传病

Karen L Stals ,Matthew Wakeling ,Júlia Baptista ,Richard Caswell ,Andrew Parrish ,Julia Rankin ,Carolyn Tysoe ,Garan Jones ,Adam C Gunning ,Hana Lango Allen ,Lisa Bradley ,Angela F Brady ,Helena Carley ,Jenny Carmichael ,Bruce Castle ,Deirdre Cilliers ,Helen Cox ,Charu Deshpande ,Abhijit Dixit ,Jacqueline Eason ,Frances Elmslie ,Andrew E Fry ,Alan Fryer ,Muriel Holder ,Tessa Homfray ,Emma Kivuva ,Victoria McKay ,Ruth Newbury-Ecob ,Michael Parker ,Ravi Savarirayan ,Claire Searle ,Nora Shannon ,Deborah Shears ,Sarah Smithson ,Ellen Thomas ,Peter D Turnpenny ,Vinod Varghese ,Pradeep Vasudevan ,Emma Wakeling ,Emma L Baple ,Sian Ellard