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Jun Shen

Brigham and Women's Hospital

32

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454

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Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.

2021 Molecular Therapy
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Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 Syndrome and of an iPSC line (SHCMDLi002-A) from a control individual

2021 Stem Cell Research
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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

2021 medRxiv
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Concurrent hearing and genetic screening in a general newborn population

2020 Human Genetics
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A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2

2020 Molecular Genetics & Genomic Medicine
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Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

2019 Genetics in Medicine
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Standards and regulations for reporting clinical genetic testing results in the United States

2019 Chinese journal of medical genetics
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A humanized mouse model demonstrated that apparently autosomal dominant deafness caused by MYO6 p.C442Y is inherited in a semi-dominant pattern

2019 Hearing Research
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[Points to consider for pre-testing genetic counseling in the United States].

2019 Chinese journal of medical genetics
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Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

2019 Genetics in Medicine
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