Fowzan S. Alkuraya

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

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Sulaiman M. Al‐Mayouf, Asma Sunker, Reem Abdwani et al. · Nature Genetics · 2011 · 463 citations

Chromatin, Genome Instability, Autoimmune Disease +13

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 434 citations · Full text

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Eric Scott, Anason Halees, Yuval Itan et al. · Nature Genetics · 2016 · 382 citations · Full text

Genome-wide Association Study, Genetic Analysis, Medicine +8

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8