Heba Y. El Khashab
Ain Shams University(EG)Sulaiman Al Rajhi Colleges(SA)Ain Shams University Hospital(EG)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Glycosylation and Glycoproteins Research, Lysosomal Storage Disorders Research
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy(2016)52 cited
- → Pathogenic variants inKCTD7perturb neuronal K+fluxes and glutamine transport(2016)36 cited
- → The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population(2014)25 cited