Shamsa Anazi

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin et al. · Cell Reports · 2014 · 465 citations · Full text

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Leen Abu‐Safieh, May Alrashed, Shamsa Anazi et al. · Genome Research · 2012 · 277 citations · Full text

Rd Families, Genetics, Genetic Epidemiology +18

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 245 citations · Full text

Ciliopathy Genes, Functional Genomics, Glioma +10

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Mohammed A. Aldahmesh, Arif O. Khan, Hisham Alkuraya et al. · The American Journal of Human Genetics · 2013 · 128 citations · Full text

Ophthalmology, Severe Myopia, Genetic Disorder +3

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya et al. · Genetics in Medicine · 2015 · 109 citations · Full text

Ocular Disease, Retina, Ophthalmology +4