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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
- 137 citationsMutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic DysplasiaDeborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler
American Journal of Human Genetics. 2009-03-13 - 222 citationsIncreased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, Patricia A. Ward, William J. Craigen
Genetics in Medicine. 2006-12-01 - 121 citationsCopy number variation plays an important role in clinical epilepsyHeather E. Olson, Yiping Shen, Jennifer Avallone, Beth Rosen Sheidley, Rebecca Pinsky
Annals of Neurology. 2014-06-01
Press Mentions
- 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
- ‘It Gives Me Tremendous Anxiety’: California's Delta Surge Sparks Flashbacks for Many Health Care WorkersJuly 30th, 2021
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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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