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Office
500 Kendall St
Cambridge, MA 02142Phone+1 617-519-1310- Is this information wrong?
Education & Training
- National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 2002 - 2004
- Medical College of Wisconsin Affiliated HospitalsResidency, Pediatrics, 1999 - 2002
- Chicago Medical School at Rosalind Franklin University of Medicine and ScienceClass of 1999
Certifications & Licensure
- NC State Medical License 2009 - 2025
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
Awards, Honors, & Recognition
- Physician Practice Connections Recognition Program National Committee for Quality Assurance, 2010-2013
Clinical Trials
- Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD) Start of enrollment: 2005 Dec 01
- Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Start of enrollment: 2010 Feb 01
- Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Start of enrollment: 2012 Apr 01
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Publications & Presentations
PubMed
- 11 citationsSafety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary...Priya S Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Si Houn Hahn, Satoko Kumada, François Labarthe, Hirotaka Ohki, Samia Pichard, S Gra...> ;Genetics in Medicine. 2023 Feb 1
- 4 citationsQualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.Alaa Hamed, Kristina An Haack, Chad J. Gwaltney, Eileen Baranowski, Andrew Stewart, Robert Krupnick, Margaret Tyler, Susan Sparks, Jean Paty> ;Orphanet Journal of Rare Diseases. 2021 Oct 12
- 5 citationsCardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.Barry J. Byrne, Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan Sparks, James B. Gibson, Kristina An Haack, David W. Stockton, Loren D.M. Pena, Si Houn H...> ;Cardiology in the Young. 2021 Aug 23
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