Jodi D. Hoffman, MD

Associate Professor, Boston University Chobanian & Avedisian School of Medicine

Biography

Dr. Hoffman is Associate Professor of Pediatrics at the BU School of Medicine. She is Chief of Medical Genetics in the Department of Pediatrics at Boston Medical Center. She is also Medical Director of the BU Master’s Program in Genetic Counseling and teaches and mentors genetic counseling students. She received her medical degree at Albert Einstein College of Medicine in the Bronx and then completed a Pediatric residency at Yale Children’s Hospital in New Haven. Dr. Hoffman’s Medical Genetics training was completed at Children’s Hospital of Philadelphia where she developed special interests in Jewish genetic diseases, hereditary cancer syndromes, connective tissue disorders and the 22q11.2 deletion syndrome. Dr. Hoffman practices as a general medical geneticist and provides counseling and diagnosis regarding prenatal care, neonates, children and adults with personal and family history of genetic conditions. Dr. Hoffman works with the BU Lab to optimize genetic testing throughout BUMC. She also works with the Framingham Heart Study regarding the disclosure of secondary findings. She is a member of the BUMG Work Harmony Committee and serves on the ACMG Program Committee.

Publications

  • Published 6/16/2020

    Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman JD, Angle B, Slotnick RN, Simpson BN, Lewis AM, Magoulas PL, Bontempo K, Schulze J, Tarpinian J, Bucher JA, Dineen R, Goetsch A, Lazarin GA, Johansen Taber K. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. Prenat Diagn. 2020 09; 40(10):1246-1257. PMID: 32474937.

    Read at: PubMed

  • Published 1/24/2020

    Hoffman JD, Thompson R, Swenson KB, Dasgupta S. Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop. MedEdPORTAL. 2020 01 24; 16:10869. PMID: 32342009.

    Read at: PubMed

  • Published 9/1/2019

    Gilliam E, Hoffman JD, Yeh G. Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review. Clin Genet. 2020 01; 97(1):168-178. PMID: 31420870.

    Read at: PubMed

  • Published 7/1/2019

    Long AH, Fiore JG, Gillani R, Douglass LM, Fujii AM, Hoffman JD. Hypotonia and Lethargy in a Two-Day-Old Male Infant. Pediatrics. 2019 07; 144(1). PMID: 31227563.

    Read at: PubMed

  • Published 4/11/2019

    David KL, Best RG, Brenman LM, Bush L, Deignan J, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. PMID: 30971833.

    Read at: PubMed

View All 34 Publications:   View Full Profile in BUMC

Websites

Education

  • Albert Einstein College of Medicine, MD
  • Harvard University, AB

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