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Office
1900 9th Ave
Stop C9S-10
Seattle, WA 98101Phone+1 773-895-0555Fax+1 206-987-3830
Education & Training
- University of Chicago/Northwestern UniversityResidency, Medical Genetics and Genomics, 2009 - 2011
- University of Illinois College of Medicine at ChicagoResidency, Pediatrics, 2006 - 2009
- Arabian Gulf University College of MedicineClass of 2003
Certifications & Licensure
- AK State Medical License 2024 - 2026
- MT State Medical License 2022 - 2026
- WA State Medical License 2012 - 2025
- IL State Medical License 2006 - 2014
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Publications & Presentations
PubMed
- 8 citationsThe ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J Barkovich, Yang Cao
Genetics in Medicine. 2022-11-01 - 127 citationsPIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda M. Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha
JCI Insight. 2016-06-16 - 516 citationsDe novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O'Roak, Margaret Beddaoui, Diana Alcantara
Nature Genetics. 2012-08-01
Journal Articles
- The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the Divide Between Clinical Domain Knowledge and Formal Gene Curation CriteriaGhayda Mirzaa, Kristen Park, Tristan T Sands, Erika Axeen, Tanya M Bardakjian, Annapurna Poduri, Katherine L Helbig, Heather C Mefford, Human Mutation
- Further Delineation of Malan SyndromeGhayda Mirzaa, MD, Human Mutation
Press Mentions
- Comprehensive Clinical Study Confirms the Molecular Link Between Microcephaly Caused by Zika and ANKLE2 VariantsSeptember 15th, 2022
- ‘Continuum of Expertise’ of International Researchers Examines Pediatric EpilepsyJanuary 24th, 2022
- Doctors Puzzle over Severity of Defects in Some Brazilian BabiesFebruary 7th, 2016
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