Jamuar, Saumya Shekhar

Top Publications

Top Publications Authored or Co-Authored by "Jamuar, Saumya Shekhar"

• Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

  Journal of Pediatrics, Volume 239, Year 2021, Citations 100
• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

  Genetics in Medicine, Volume 21, No. 10, Year 2019, Citations 70
• Williams–Beuren syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 176, No. 5, Year 2018, Citations 69
• Turner syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 182, No. 2, Year 2020, Citations 52