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

MD, Albert Einstein College of Medicine
Websites
favorite icon BMC Genetics


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. 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;.
  2. 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;.
  3. 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;.
  4. 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;.
  5. 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;.
  6. Zielinski D, Markus B, Sheikh M, Gymrek M, Chu C, Zaks M, Srinivasan B, Hoffman JD, Aizenbud D, Erlich Y. OTX2 duplication is implicated in hemifacial microsomia. PLoS One. 2014; 9(5):e96788. PMID: 24816892; PMCID: PMC4016008; DOI: 10.1371/journal.pone.0096788;.
  7. Orenstein M, Barbouth D, Bodamer OA, Weinreb NJ. Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. Orphanet J Rare Dis. 2014; 9:45. PMID: 24685312; PMCID: PMC4230272; DOI: 10.1186/1750-1172-9-45;.
  8. Hoffman JD, Greger V, Strovel ET, Blitzer MG, Umbarger MA, Kennedy C, Bishop B, Saunders P, Porreca GJ, Schienda J, Davie J, Hallam S, Towne C. Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. Mol Genet Genomic Med. 2013 Nov; 1(4):260-8. PMID: 24498621; PMCID: PMC3865593; DOI: 10.1002/mgg3.37;.
  9. Ross LF, Ross LF, Saal HM, David KL, Anderson RR. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013 Mar; 15(3):234-45. PMID: 23429433; DOI: 10.1038/gim.2012.176;.
  10. Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. 3q26.33-3q27.2 microdeletion: a new microdeletion syndrome? Eur J Med Genet. 2013 Apr; 56(4):216-21. PMID: 23357683; DOI: 10.1016/j.ejmg.2013.01.005;.
Showing 10 of 25 results. Show More

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

Bar chart showing 25 publications over 14 distinct years, with a maximum of 4 publications in 2006

YearPublications
19941
19981
20053
20064
20071
20082
20091
20101
20121
20133
20143
20152
20161
20171
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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771 Albany St
Boston MA 02118
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