Alghamdi, Malak Ali

Top Publications

Top Publications Authored or Co-Authored by "Alghamdi, Malak Ali"

• 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
• JAK inhibitor therapy in a child with inherited usp18 deficiency

  New England Journal of Medicine, Volume 382, No. 3, Year 2020, Citations 58
• Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

  American Journal of Human Genetics, Volume 105, No. 4, Year 2019, Citations 52
• Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

  Molecular Genetics and Metabolism, Volume 139, No. 3, Article 107624, Year 2023, Citations 50