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Office
300 Longwood Ave
Children's Hospital Boston, Fegan 10
Boston, MA 02115Phone+1 617-355-4697Fax+1 617-730-0788
Education & Training
- McGaw Medical Center of Northwestern UniversityResidency, Pediatrics, 1980 - 1983
- Northwestern University The Feinberg School of MedicineClass of 1980
Certifications & Licensure
- MA State Medical License 1983 - 2025
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Fellow (FAAP) American Academy of Pediatrics
Clinical Trials
- Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Start of enrollment: 1998 Jan 01
Publications & Presentations
PubMed
- Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L Hoffman
American Journal of Medical Genetics. Part A. 2025-03-29 - Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein
NPJ Genomic Medicine. 2024-12-02 - 41 citationsTrustworthy Augmented Intelligence in Health Care.Elliott Crigger, Karen Reinbold, Chelsea Hanson, Audiey Kao, Kathleen Blake
Journal of Medical Systems. 2022-01-12
Press Mentions
- Mütter Museum and College of Physicians Have a New CEO, Larry KaiserJanuary 13th, 2025
- Longtime Curator Anna Dhody Resigns from the Mütter MuseumAugust 14th, 2024
- New Leaders at the Mütter Museum Ponder ‘Diving into the Fantastic’ in a Post-Pandemic FutureSeptember 8th, 2022
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Grant Support
- Treatment Of The Cholesterol Defect In Smith-Lemli Opitz SyndromeNational Center For Research Resources2004–2007
- Ptpn11: Genotype Phenotype Correlations In Noonan Syndrome &Related DisordersNational Center For Research Resources2005
- The Pathogenesis Of Ovarian Failure In GalactosemiaEunice Kennedy Shriver National Institute Of Child Health &Human Development1985
Professional Memberships
- Fellow
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