
Fowzan S Alkuraya MD
Clinical Genetics, Clinical Molecular Genetics
Professor of Human Genetics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
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300 Longwood AveFegan 10Boston, MA 02115
Phone+1 617-355-6000
Fax+1 617-525-4751
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Education & Training
Boston Children’s Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2003 - 2006
MedStar Health Georgetown UniversityResidency, Pediatrics, 2000 - 2003
King Saud University College of MedicineClass of 1998
Certifications & Licensure
MA State Medical License 2004 - 2026
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Publications & Presentations
PubMed
- 1 citationsNovel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.Frederike L Harms, Christian Müller, Fanny Kortüm, Maja Hempel, Malik Alawi
European Journal of Human Genetics. 2025-12-01 - 1 citationsADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser
Brain. 2025-09-03 - 4 citationsHCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian
Annals of Neurology. 2025-09-01
Press Mentions
RNA for Medical AnalysisSeptember 28th, 2020
ASHG Grants Curt Stern Award to Dr. Fowzan AlkurayaJuly 14th, 2020
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