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Office
55 Fruit St
Boston, MA 02114Phone+1 617-726-1561
Education & Training
- Harvard Medical School2011 - 2014
- Boston Children’s Hospital/Boston Medical CenterResidency, Pediatrics, 2009 - 2011
- Perelman School of Medicine at the University of PennsylvaniaClass of 2009
Certifications & Licensure
- MA State Medical License 2013 - 2025
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 3 citationsBiallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki
Brain. 2023-12-01 - 5 citationsA de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker
Genetics. 2023-08-09 - 1 citationsDe novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello
American Journal of Human Genetics. 2023-08-03
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