Jodi D. Hoffman, MD
Associate Professor
Boston University School of Medicine
Dept of Pediatrics
Medical Genetics

MD, Albert Einstein College of Medicine




Prior to joining the Department of Pediatrics at BMC, Dr. Hoffman was Associate Professor of Pediatrics at Tufts University School of Medical, where she served as Program Director for the Medical Genetics residency. She also practiced medical genetics at Tufts Medical Center and was Director of the Victor Outreach and Screening Program for Ashkenazi Jewish Genetic Diseases in Boston. She received her medical degree at Albert Einstein College of Medicine in the Bronx. Dr. Hoffman 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 genetic conditions. Dr. Hoffman speaks throughout the Jewish community on the topic of genetic diseases seen more commonly in people of Ashkenazi Jewish descent. She has spoken at over 100 venues on this topic and has facilitated screening drives for 14 college campuses and communities to date
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

  1. Long AH, Fiore JG, Gillani R, Douglass LM, Fujii AM, Hoffman JD. Hypotonia and Lethargy in a Two-Day-Old Male Infant. Pediatrics. 2019 Jul; 144(1).View Related Profiles. PMID: 31227563.
     
  2. 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 Apr 11. PMID: 30971833.
     
  3. 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.
     
  4. 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.
     
  5. 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.
     
  6. 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; DOI: 10.1038/ng.3743;.
     
  7. 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; DOI: 10.1038/ng.3720;.
     
  8. Hoffman JD, Kleeman L, Kennelly K, Honey E, Reardon W. Three new families with recurrent male miscarriages and hypercoiled umbilical cord. Clin Dysmorphol. 2015 Jul; 24(3):128-31. PMID: 25793651; DOI: 10.1097/MCD.0000000000000084;.
     
  9. Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2497-502. PMID: 26111080; DOI: 10.1002/ajmg.a.37217;.
     
  10. Hoffman JD, Park JJ, Schreiber-Agus N, Kornreich R, Tanner AK, Keiles S, Friedman KJ, Heim RA. The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn. 2014 Dec; 34(12):1161-7. PMID: 24996053; DOI: 10.1002/pd.4446;.
     
Showing 10 of 31 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 31 publications over 17 distinct years, with a maximum of 4 publications in 2006

YearPublications
19941
19981
19991
20053
20064
20071
20082
20091
20101
20121
20133
20143
20152
20161
20173
20181
20192
In addition to these self-described keywords below, a list of MeSH based concepts is available here.

Jewish genetic screening, dysmorphology, preconception screening, ethics of genetic testing
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