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Lingyun Mei

Central South University

49

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336

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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

2021 Proceedings of the National Academy of Sciences of the United States of America
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Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.

2021 Gene Therapy
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[Application value of high-throughput gene copy number variation detection in the diagnosis of enlarged vestibular aqueduct].

2021 National Medical Journal of China
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A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development

2021 Frontiers in Cell and Developmental Biology
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Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type II caused by a MITF mutation.

2021 Stem Cell Research
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[Application of PCR reverse dot blot in non-syndromic deafness gene detection].

2020 Journal of clinical otorhinolaryngology, head, and neck surgery
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MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

2020 Otology & Neurotology
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Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I

2020 European Archives of Oto-rhino-laryngology
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New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

2019 Neural Plasticity
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A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss

2019 PLOS ONE
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