Associated Papers
Two cases of autosomal dominant familial short stature associated with COL11A2 gene variant and the therapeutic response to recombinant human growth hormone.
Bao P et al.
Translational Pediatrics, 2025
Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.
Lin ZJ et al.
Frontiers in Medicine, 2024
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM2_ESM.xlsx › SelectedGene
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
Kim AR et al.
International Journal of Molecular Sciences, 2017
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Xie H et al.
Scientific Reports, 2017
28333167 (PubMed )
Supplement: srep44271-s1.pdf
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I et al.
Molecular Genetics and Genomics : Mgg, 2015
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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