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European Journal of Human Genetics : EJHG|October 11, 2023
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndromeMadiha Amin Malik, Muhammad Arif Nadeem Saqib, Edwin Mientjes, et al.Annals of Clinical and Translational Neurology|September 20, 2020
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathiesZhiying Xie, Chengyue Sun, Siwen Zhang, et al.Human Genetics|August 19, 2021
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosisAllan Thomas Højland, Lisse J M Tavernier, Isabelle Schrauwen, et al.Seminars in Pediatric Neurology|July 3, 2018
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test resultsBrittany Gerald, Keri Ramsey, Newell Belnap, et al.Journal of Human Genetics|September 5, 2018
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Ilene Chiu, Kwanghyuk Lee, et al.European Journal of Human Genetics : EJHG|November 27, 2021
Genomic analysis of childhood hearing loss in the Yoruba population of NigeriaAdebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, et al.Journal of Human Genetics|April 21, 2021
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.Neurobiology of Aging|April 16, 2013
Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's diseaseMargarita Giraldo, Francisco Lopera, Ashley L Siniard, et al.Plos One|July 16, 2015
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.Journal of Neurology|November 2, 2022
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variantsZhiying Xie, Chengyue Sun, Chang Liu, et al.Pageof 13