Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease.
Han G et al.
Journal of Personalized Medicine, 2025
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Zhang X et al.
Pediatric Rheumatology Online Journal, 2023
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K et al.
Genes, 2021
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Wang M et al.
Bmc Medical Genetics, 2020
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
Almutawa W et al.
Ebiomedicine, 2019
Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
Kim BJ et al.
The Journal of Gene Medicine, 2017
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Choi BO et al.
Human Mutation, 2011
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