Hijazi, Hadia

Top Publications

Top Publications Authored or Co-Authored by "Hijazi, Hadia"

• Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families

  Cell Reports, Volume 10, No. 2, Year 2015, Citations 386
• Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 95
• Molecular characterization of Joubert syndrome in Saudi Arabia

  Human Mutation, Volume 33, No. 10, Year 2012, Citations 58
• Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

  American Journal of Human Genetics, Volume 105, No. 5, Year 2019, Citations 36
• Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

  Clinical Genetics, Volume 87, No. 1, Year 2015, Citations 11