El-Khashab, Heba Y.

Top Publications

Top Publications Authored or Co-Authored by "El-Khashab, Heba Y."

• The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

  Human Genetics, Volume 136, No. 8, Year 2017, Citations 100
• Autozygome and high throughput confirmation of disease genes candidacy

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 78
• The many faces of peroxisomal disorders: Lessons from a large Arab cohort

  Clinical Genetics, Volume 95, No. 2, Year 2019, Citations 45
• Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

  American Journal of Human Genetics, Volume 98, No. 6, Year 2016, Citations 41
• Pathogenic variants in KCTD7 perturb neuronal K⁺ fluxes and glutamine transport

  Brain, Volume 139, No. 12, Year 2016, Citations 29