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Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, et al.
American Journal of Human Genetics|November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
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