Division of Genetic and Metabolic Medicine

Top Publications

Top Publications Authored or Co-Authored in "Division of Genetic and Metabolic Medicine"

• Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

  American Journal of Human Genetics, Volume 104, No. 6, Year 2019, Citations 100
• Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

  European Journal of Medical Genetics, Volume 65, No. 8, Article 104537, Year 2022, Citations 18
• Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia

  Saudi Medical Journal, Volume 41, No. 8, Year 2020, Citations 9
• Hypospadias in ring X syndrome

  European Journal of Medical Genetics, Volume 64, No. 7, Article 104225, Year 2021, Citations 9
• A novel variant of RBCK1 gene causes mild polyglucosan myopathy

  Neurosciences, Volume 27, No. 1, Year 2022, Citations 4