Fowzan S. Alkuraya

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 · 479 citations

Life Sciences, Genetics, Molecular Genetics +14

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 · 472 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 453 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

Eric Scott, Anason Halees, Yuval Itan et al. · Nature Genetics · 2016 · 390 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16