Zuhair Rahbeeni
King Faisal Specialist Hospital & Research Centre(SA)Rambam Health Care Campus(IL)Center for Genomic Science(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Biochemical and Molecular Research
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes(2012)280 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 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