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Office
300 Longwood Ave
Fegan 10
Boston, MA 02115Phone+1 617-355-6000Fax+1 617-525-4751
Education & Training
- Boston Children’s Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2003 - 2006
- MedStar Health/Georgetown University HospitalResidency, 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
- 118 citationsMutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial EncephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline Biagosch, Hanan E. Shamseldin
American Journal of Human Genetics. 2013-09-05 - 35 citationsExome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.Corina Shtir, Mohammed A. Aldahmesh, Saad Al-Dahmash, Emad B. Abboud, Hisham Alkuraya
Human Genetics. 2016-02-01 - 57 citationsVariants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.David T. Burns, Sandra Donkervoort, Juliane S. Müller, Ellen Knierim, Diana Bharucha-Goebel
American Journal of Human Genetics. 2018-05-03
Press Mentions
- RNA for Medical AnalysisSeptember 28th, 2020
- ASHG Grants Curt Stern Award to Dr. Fowzan AlkurayaJuly 14th, 2020
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