Keywords
Last Name

Jodi D. Hoffman, MD

TitleAssociate Professor
InstitutionBoston University School of Medicine
DepartmentPediatrics
DivisionMedical Genetics
Address771 Albany St., rm. 3503
Boston MA 02118
Phone(617) 414-3685
 Self-Described Keywords
  • Jewish genetic screening, dysmorphology, preconception screening, ethics of genetic testing
 Publications
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.
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  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 Jan 09. PMID: 28067909.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  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.
    View in: PubMed
  11. Shen Z, Hoffman JD, Hao F, Pier E. More than just skin deep: faciocutaneous clues to genetic syndromes with malignancies. Oncologist. 2012; 17(7):930-6. PMID: 22707513.
    View in: PubMed
  12. Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Type I hyperprolinemia: genotype/phenotype correlations. Hum Mutat. 2010 Aug; 31(8):961-5. PMID: 20524212.
    View in: PubMed
  13. Schneider A, Nakagawa S, Keep R, Dorsainville D, Charrow J, Aleck K, Hoffman J, Minkoff S, Finegold D, Sun W, Spencer A, Lebow J, Zhan J, Apfelroth S, Schreiber-Agus N, Gross S. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing. Am J Med Genet A. 2009 Nov; 149A(11):2444-7. PMID: 19876898.
    View in: PubMed
  14. Hoffman JD, Bianchi DW, Sullivan LM, Mackinnon BL, Collins J, Malone FD, Porter TF, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D'Alton ME. Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydrocele. Prenat Diagn. 2008 Dec; 28(13):1204-8. PMID: 19034930.
    View in: PubMed
  15. Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008 Oct 15; 146A(20):2603-10. PMID: 18798333.
    View in: PubMed
  16. Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH. A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Am J Med Genet A. 2007 Jun 15; 143A(12):1282-6. PMID: 17506099.
    View in: PubMed
  17. Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet A. 2006 Oct 15; 140(20):2163-9. PMID: 16969868.
    View in: PubMed
  18. Hoffman JD, Steiner RD, Paradise L, Harding CO, Ding L, Strauss AW, Kaplan P. Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. Mil Med. 2006 Jul; 171(7):657-8. PMID: 16895136.
    View in: PubMed
  19. Segel R, Peter I, Demmer LA, Cowan JM, Hoffman JD, Bianchi DW. The natural history of trisomy 12p. Am J Med Genet A. 2006 Apr 1; 140(7):695-703. PMID: 16502429.
    View in: PubMed
  20. Huang J, Hoffman JD, Zhang Y, Maisenbacher MK, Zackai EH, Weber BL, Ming JE. Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH. Clin Genet. 2006 Apr; 69(4):367-9. PMID: 16630174.
    View in: PubMed
  21. Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A. 2005 Jun 15; 135(3):278-81. PMID: 15887282.
    View in: PubMed
  22. Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005 May 15; 135(1):96-8. PMID: 15809999.
    View in: PubMed
  23. Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. J Med Genet. 2005 Jan; 42(1):49-53. PMID: 15635075.
    View in: PubMed
  24. Hoffman JD, Hallam SE, Venne VL, Lyon E, Ward K. Implications of a novel cryptic splice site in the BRCA1 gene. Am J Med Genet. 1998 Nov 2; 80(2):140-4. PMID: 9805131.
    View in: PubMed
  25. Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. Hum Mutat. 1994; 4(3):199-207. PMID: 7833949.
    View in: PubMed
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