Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1
Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.
Romo-Aguas JC et al.
Investigative Ophthalmology & Visual Science, 2025
40257781 (PubMed )
Supplement: iovs-66-4-60_s002.xlsx › Genetic_results
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Bahena P et al.
Human Genetics, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.
Brodie KD et al.
The Laryngoscope, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Genetic screening revealed usher syndrome in a paediatric Chinese patient.
Qu C et al.
Hearing, Balance and Communication, 2017
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L et al.
Orphanet Journal of Rare Diseases, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.
Zhai W et al.
International Journal of Ophthalmology, 2015
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.
Shahzad M et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2013
Inner ear morphology is perturbed in two novel mouse models of recessive deafness.
Miller KA et al.
Plos One, 2012
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