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H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E; Care4Rare Canada Consortium; Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL. Kernohan KD, et al. Among authors: boycott km. Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26633. Epub 2017 May 16. Pediatr Blood Cancer. 2017. PMID: 28509377
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C; FORGE Canada Consortium; Majewski J, Boycott KM, Graham G, Bromwich M. Liu H, et al. Among authors: boycott km. Am J Med Genet A. 2015 Jun;167(6):1337-41. doi: 10.1002/ajmg.a.36969. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899773
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M; University of Washington Centre for Mendelian Genomics; FORGE Canada Consortium; Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA. Sawyer SL, et al. Among authors: boycott km. Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3. Cancer Discov. 2015. PMID: 25472942 Free PMC article.
Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.
Xi Y, Honeywell C, Zhang D, Schwartzentruber J, Beaulieu CL, Tetreault M, Hartley T, Marton J, Vidal SM, Majewski J, Aravind L; Care4Rare Canada Consortium; Gollob M, Boycott KM, Gow RM. Xi Y, et al. Among authors: boycott km. Int J Cardiol. 2015 Apr 15;185:114-6. doi: 10.1016/j.ijcard.2015.03.130. Epub 2015 Mar 11. Int J Cardiol. 2015. PMID: 25791106 Free PMC article. No abstract available.
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J; Care4Rare Canada Consortium; Holcik M, Majewski J, Richer J, Boycott KM. Kernohan KD, et al. Among authors: boycott km. Hum Mol Genet. 2015 Nov 15;24(22):6293-300. doi: 10.1093/hmg/ddv337. Epub 2015 Aug 24. Hum Mol Genet. 2015. PMID: 26307080 Free PMC article.
284 results