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Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT; Care4Rare Canada Consortium. Ejaz R, et al. Among authors: boycott km. Am J Med Genet A. 2016 Apr;170A(4):1070-5. doi: 10.1002/ajmg.a.37541. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754023
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.
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium; Michaud JL, Majewski J. Tetreault M, et al. Among authors: boycott km. Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23. Hum Genet. 2015. PMID: 26099313
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
Hood RL, McGillivray G, Hunter MF, Roberston SP, Bulman DE, Boycott KM, Stark Z; Care4Rare Canada Consortium. Hood RL, et al. Among authors: boycott km. Am J Med Genet A. 2016 Feb;170A(2):531-535. doi: 10.1002/ajmg.a.37402. Epub 2015 Nov 27. Am J Med Genet A. 2016. PMID: 26613968 No abstract available.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.
278 results