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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center; van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium; Bulman DE, Boycott KM, Lines MA. Huang L, et al. Among authors: bulman de. Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Hum Mutat. 2016. PMID: 26507355 Free PMC article. Review.
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium; Rodenburg RJ, Boycott KM, Penney LS. Smith AC, et al. Among authors: bulman de. J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20. J Inherit Metab Dis. 2018. PMID: 29560582
Refinement of the DYT15 locus in myoclonus dystonia.
Han F, Racacho L, Lang AE, Bulman DE, Grimes DA. Han F, et al. Among authors: bulman de. Mov Disord. 2007 Apr 30;22(6):888-92. doi: 10.1002/mds.21400. Mov Disord. 2007. PMID: 17274032
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium; Friedman JM, Michaud JL, Boycott KM. Beaulieu CL, et al. Among authors: bulman de. Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003. Am J Hum Genet. 2014. PMID: 24906018 Free PMC article.
150 results