Alahmad, Ahmad M.

Top Publications

Top Publications Authored or Co-Authored by "Alahmad, Ahmad M."

• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

  American Journal of Human Genetics, Volume 109, No. 9, Year 2022, Citations 54
• Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing

  Human Mutation, Volume 40, No. 10, Year 2019, Citations 33
• What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

  BMC Medical Genomics, Volume 13, No. 1, Article 103, Year 2020, Citations 29
• Early diagnosis of classic homocystinuria in kuwait through newborn screening: A 6-year experience

  International Journal of Neonatal Screening, Volume 7, No. 3, Article 56, Year 2021, Citations 22