Liu, Xuezhong

Top Publications

Top Publications Authored or Co-Authored by "Liu, Xuezhong"

• A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

  Nature Genetics, Volume 26, No. 1, Year 2000, Citations 471
• Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

  Proceedings of the National Academy of Sciences of the United States of America, Volume 99, No. 9, Year 2002, Citations 163
• Amissense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

  Human Molecular Genetics, Volume 24, No. 9, Year 2015, Citations 90
• ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

  Genetics in Medicine, Volume 21, No. 10, Year 2019, Citations 70
• Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

  Genetics in Medicine, Volume 21, No. 11, Year 2019, Citations 51