Jodi D. Hoffman, MD
Associate Professor, Pediatrics
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.
Websites
Education
- Albert Einstein College of Medicine, MD
- Harvard University, AB
Publications
- Published on 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 on 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 on 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 on 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 on 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 - Published on 12/22/2018
David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 04; 21(4):769-771. PMID: 30578420.
Read at: PubMed - Published on 10/22/2017
Stover MW, Cowan J, Cross L, Hoffman J, Craigo SD. Prenatal presentation of 49,XXXXY syndrome. Prenat Diagn. 2017 Nov; 37(11):1176-1178. PMID: 28940214.
Read at: PubMed - Published on 5/26/2017
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969. PMID: 28546579.
Read at: PubMed - Published on 1/9/2017
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. PMID: 28067909.
Read at: PubMed - Published on 11/14/2016
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 Jan; 49(1):36-45. PMID: 27841880.
Read at: PubMed
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