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Office
55 Lake Ave N
Department of Pediatric Genetics
Worcester, MA 01655Phone+1 774-442-5695Fax+1 774-442-3525
Education & Training
- National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 1999 - 2002
- University of RochesterResidency, Pediatrics, 1996 - 1999
- Sidney Kimmel Medical College at Thomas Jefferson UniversityClass of 1996
Certifications & Licensure
- MA State Medical License 2003 - 2025
- MD State Medical License 2000 - 2004
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 370 citationsNewborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United StatesAntonia Kwan, Roshini S. Abraham, Robert Currier, Amy Brower, Karen Andruszewski
JAMA. 2014-08-20 - 79 citationsBCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.Emma Hilton, Jennifer J. Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa
European Journal of Human Genetics. 2009-04-15 - 85 citationsThe phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz
Genetics in Medicine. 2017-01-01
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