Maha Tulbah
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Renal and related cancers, Maternal and fetal healthcare, Genomics and Rare Diseases
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
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families(2015)121 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Mutation in MPDZ causes severe congenital hydrocephalus(2012)107 cited
- → Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families(2023)37 cited
- → Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel(2016)33 cited
- → Sociodemographic characteristics and sexual behavior as risk factors for human papillomavirus infection in Saudi Arabia(2016)30 cited
- → Lethal variants in humans: lessons learned from a large molecular autopsy cohort(2021)29 cited