Sumner, Charlotte Jane

Top Publications

Top Publications Authored or Co-Authored by "Sumner, Charlotte Jane"

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

  Nature Genetics, Volume 42, No. 2, Year 2010, Citations 290
• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

  Brain, Volume 133, No. 6, Year 2010, Citations 103
• Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

  Nature Genetics, Volume 52, No. 5, Year 2020, Citations 94
• Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

  Neurology, Volume 79, No. 2, Year 2012, Citations 30
• Genetics and genomic medicine in Mali: Challenges and future perspectives

  Molecular Genetics and Genomic Medicine, Volume 4, No. 2, Year 2016, Citations 8