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Office
300 LONGWOOD AVE., HUNNEWELL 539
Boston, MA 02115Phone+1 857-218-5544
Education & Training
- Baylor College of MedicineResidency, Medical Genetics and Genomics, 1997 - 1999
- Ruprecht Karl University Faculty of MedicineClass of 1992
Certifications & Licensure
- MA State Medical License 2015 - 2025
- FL State Medical License 2010 - 2016
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 79 citationsProspective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang
Genetics in Medicine. 2020-04-01 - 6 citationsLysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.Alec Wright, Arielle Hall, Tara Daly, Tatiana Fontelonga, Sarah J. Potter
FASEB Journal. 2021-11-01 - 19 citationsFrom Genotype to Phenotype-A Review of Kabuki Syndrome.Kelly K Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P Adam
Genes. 2022-09-29
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