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Zheng Mao Hu

Central South University

12

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465

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Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss

2017 Journal of Human Genetics
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Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families

2017 Clinical Genetics
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SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations

2015 Clinical Genetics
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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

2012 Nature Genetics
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Mutation analysis of LITAF , RAB7 , LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease: Mutation analysis of LITAF , RAB7 , LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease

2010 Hereditas (beijing)
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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

2010 Brain
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Linkage analyses of candidate chromosomal regions in bipolar disorder complex pedigrees

2009
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Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree

2009 Journal of The European Academy of Dermatology and Venereology
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Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris

2007 Acta Academiae Medicinae Sinicae
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A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

2004 Molecular Vision
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Citations (27)