Amal Alhashem
King Fahad Specialist Hospital(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome(2014)141 cited
- → In search of triallelism in Bardet–Biedl syndrome(2012)124 cited
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH(2014)121 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited