Alsahli, Saud A.

Top Publications

Top Publications Authored or Co-Authored by "Alsahli, Saud A."

• Genomic and phenotypic delineation of congenital microcephaly

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 81
• Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

  Brain, Volume 141, No. 7, Year 2018, Citations 70
• A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

  Molecular Genetics and Metabolism, Volume 121, No. 2, Year 2017, Citations 60
• Expanding the phenome and variome of skeletal dysplasia

  Genetics in Medicine, Volume 20, No. 12, Year 2018, Citations 56
• Expanding the genetic heterogeneity of intellectual disability

  Human Genetics, Volume 136, No. 11-12, Year 2017, Citations 43