Assoum, Mirna

Top Publications

Top Publications Authored or Co-Authored by "Assoum, Mirna"

• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

  American Journal of Human Genetics, Volume 82, No. 3, Year 2008, Citations 301
• Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

  American Journal of Human Genetics, Volume 87, No. 3, Year 2010, Citations 198
• 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
• The clinical utility of rapid exome sequencing in a consanguineous population

  Genome Medicine, Volume 15, No. 1, Article 44, Year 2023, Citations 67
• PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

  Brain, Volume 138, No. 6, Year 2015, Citations 60