Associated Papers
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Jin Y et al.
Biomedicines, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Clinical Interpretation of Sequence Variants.
Zhang J et al.
Current Protocols in Human Genetics, 2020
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
Soh LM et al.
European Journal of Endocrinology, 2015
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
Chen K et al.
Journal of Translational Medicine, 2014
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.
Chen K et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012
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