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Investigative Ophthalmology & Visual Science|October 16, 2014
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosaFeng Wang, Yandong Wang, Bin Zhang, et al.
Human Molecular Genetics|February 25, 2016
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaMingchu Xu, Takeyuki Yamada, Zixi Sun, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular InvolvementMingchu Xu, Violet Gelowani, Aiden Eblimit, et al.
Human Molecular Genetics|August 8, 2018
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosaLin Zhang, Zixi Sun, Peiquan Zhao, et al.
Human Molecular Genetics|May 6, 2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein traffickingSmriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamilyTalya Millo, Antonio Rivera, Alexey Obolensky, et al.
Human Mutation|July 18, 2017
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significanceZachry T Soens, Justin Branch, Shijing Wu, et al.
Investigative Ophthalmology & Visual Science|May 27, 2017
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United StatesLori S Sullivan, Sara J Bowne, Daniel C Koboldt, et al.
Cancers|July 9, 2022
Genotype-to-Phenotype Associations in the Aggressive Variant Prostate Cancer Molecular Profile (AVPC-m) ComponentsRama Soundararajan, Paul Viscuse, Patrick Pilie, et al.
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
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