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Page 1
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Guernsey DL, et al. Among authors: dyack s. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412178
Germline mutations in MAP3K6 are associated with familial gastric cancer.
Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, Greer W, Samuels ME, Orr A, Fernandez CV, Majewski J, Ludman M, Dyack S, Penney LS, McMaster CR, Huntsman D, Bedard K. Gaston D, et al. Among authors: dyack s. PLoS Genet. 2014 Oct 23;10(10):e1004669. doi: 10.1371/journal.pgen.1004669. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25340522 Free PMC article.
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.
Jarrett P, Easton A, Rockwood K, Dyack S, McCollum A, Siu V, Mirsattari SM, Massot-Tarrús A, Beis MJ, D'Souza N, Darvesh S. Jarrett P, et al. Among authors: dyack s. Can J Neurol Sci. 2018 Mar;45(2):150-157. doi: 10.1017/cjn.2017.261. Can J Neurol Sci. 2018. PMID: 29506599
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG. Burns DT, et al. Among authors: dyack s. Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011. Am J Hum Genet. 2018. PMID: 29727687 Free PMC article.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. Hostetler EM, et al. Among authors: dyack s. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. J Med Genet. 2019. PMID: 30661052
56 results