Associated Papers
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Lin PH et al.
Clinical and Experimental Otorhinolaryngology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing.
Li H et al.
Frontiers in Genetics, 2025
The genetic and molecular basis of a connexin-linked skin disease.
Lucaciu SA et al.
The Biochemical Journal, 2024
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.
Zhang X et al.
Experimental Dermatology, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.
Wang N et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Li TC et al.
Molecular Medicine Reports, 2015
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Liu H et al.
The Journal of Dermatology, 2012
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
Yang JJ et al.
Audiology & Neuro-otology, 2007
Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JE et al.
The Journal of Investigative Dermatology, 2005