Associated Papers
A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.
Peng LT et al.
Journal of Clinical Laboratory Analysis, 2026
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
Liu L et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.
Tian Y et al.
Frontiers in Neuroscience, 2023
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY et al.
Molecular Genetics & Genomic Medicine, 2020
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
[Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1].
Zhang B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L et al.
Neuromuscular Disorders : Nmd, 2017
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