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Office
20 York St
New Haven, CT 06510Phone+1 203-785-2660Fax+1 203-785-3404
Education & Training
- Duke University HospitalFellowship, Medical Biochemical Genetics, 2011 - 2012
- Duke University HospitalResidency, Medical Genetics and Genomics, 2007 - 2011
- University of Massachusetts Medical SchoolClass of 2004
Certifications & Licensure
- CT State Medical License 2013 - 2025
- NC State Medical License 2004 - 2015
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Start of enrollment: 2021 Mar 15
Roles: Contact
Publications & Presentations
PubMed
- 12 citationsA Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric SettingsHongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou
Frontiers in Genetics. 2019-11-20 - 47 citationsLiver transplantation for glycogen storage disease type Ia.Srinevas K. Reddy, Stephanie Austin, Michele Spencer-Manzon, Dwight D. Koeberl, Bryan M. Clary
Journal of Hepatology. 2009-09-01 - 28 citationsCardiac Pathology in Glycogen Storage Disease Type IIIStephanie Austin, Alan D. Proia, Michele Spencer-Manzon, J. Butany, Stephanie Burns Wechsler
JIMD Reports. 2012-01-01
Press Mentions
- Yale Program Accepted into NORD Rare Diseases Centers of Excellence NetworkMay 12th, 2023
- MobiHealthNewsOctober 1st, 2015
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