Hanan E. Shamseldin

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

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Julia Wallmeier, Dalal A. Al-Mutairi, Chun‐Ting Chen et al. · Nature Genetics · 2014 · 291 citations

Multiple Motile Cilia, Developmental Biology, Genetic Disorder +4

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn et al. · Nature Genetics · 2011 · 256 citations

Complement System, Genetic Disorder, Genetics +7

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

Shams Anazi, Sateesh Maddirevula, Eissa Faqeih et al. · Molecular Psychiatry · 2016 · 254 citations

Intellectual Impairment, Medicine, Genetics +6

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

Salil A. Lachke, Fowzan S. Alkuraya, Stephen C. Kneeland et al. · Science · 2011 · 205 citations