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Office
55 Fruit St
Boston, MA 02114Phone+1 617-726-1561Fax+1 617-726-1566
Education & Training
- Children's Hospital of PhiladelphiaResidency, Medical Genetics and Genomics, 2007 - 2010
- Duke University HospitalResidency, Medical Genetics and Genomics, 2005 - 2007
- Duke University HospitalResidency, Pediatrics, 2003 - 2005
- Oregon Health and Science University School of MedicineClass of 2003
Certifications & Licensure
- NH State Medical License 2021 - 2025
- MA State Medical License 2014 - 2024
- ME State Medical License 2021 - 2024
- RI State Medical License 2021 - 2022
- OH State Medical License 2010 - 2015
- NC State Medical License 2003 - 2011
- PA State Medical License 2007 - 2010
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 1 citationsGenotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman
Genetics in Medicine. 2023-08-01 - 12 citationsSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D Gupta, Xueyang Pan
Brain. 2023-04-19 - 3 citationsCase report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson
Frontiers in Genetics. 2023-01-01
Journal Articles
- Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy PatientsKaren W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A
Professional Memberships
- Fellow
- American College of Medical GeneticsFellow
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