Alfares, Ahmed A.

Top Publications

Top Publications Authored or Co-Authored by "Alfares, Ahmed A."

• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• The morbid genome of ciliopathies: an update

  Genetics in Medicine, Volume 22, No. 6, Year 2020, Citations 67
• 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
• Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

  Genetics in Medicine, Volume 23, No. 8, Year 2021, Citations 37