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Fowzan S. Alkuraya

Researcher Next ID · RN-011124

Researcher · Biochemistry, Genetics and Molecular Biology

Alfaisal University

, Saudi Arabia

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Not currently recruitingFunding unknown
Works count
818
Citation count
30,598
H-index
91
i10-index
474

Research interests

Biochemistry, Genetics and Molecular Biology
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Genetic and Kidney Cyst Diseases
RNA modifications and cancer
Genomic variations and chromosomal abnormalities

Publications

  • International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    The American Journal of Human Genetics · 2017 · 10.1016/j.ajhg.2017.04.003

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

    Nature Genetics · 2016 · 10.1038/ng.3592

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

    Nature Genetics · 2016 · 10.1038/ng.3720

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

    Cell Reports · 2014 · 10.1016/j.celrep.2014.12.015

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

    Nature Genetics · 2011 · 10.1038/ng.975

Current projects

    No projects listed.