van Camp, Guy V.

Top Publications

Top Publications Authored or Co-Authored by "van Camp, Guy V."

• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

  American Journal of Human Genetics, Volume 97, No. 4, Year 2015, Citations 101
• ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

  Genetics in Medicine, Volume 21, No. 10, Year 2019, Citations 70
• A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9

  Human Genetics, Volume 123, No. 3, Year 2008, Citations 58
• Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 51
• High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

  Genetic Testing and Molecular Biomarkers, Volume 14, No. 3, Year 2010, Citations 40