Boycott KM - Search Results

1

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. Among authors: boycott km. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.

2

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Warman Chardon J, et al. Among authors: boycott km. Curr Neurol Neurosci Rep. 2015 Sep;15(9):64. doi: 10.1007/s11910-015-0584-7. Curr Neurol Neurosci Rep. 2015. PMID: 26289954 Review.

3

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA. Malam F, et al. Among authors: boycott km. Am J Med Genet A. 2017 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250. Epub 2017 May 9. Am J Med Genet A. 2017. PMID: 28488422

4

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Kernohan KD, Hartley T, Naumenko S, Armour CM, Graham GE, Nikkel SM, Lines M, Geraghty MT, Richer J, Mears W, Boycott KM, Dyment DA. Kernohan KD, et al. Among authors: boycott km. Am J Med Genet A. 2018 Jul;176(7):1688-1691. doi: 10.1002/ajmg.a.38838. Am J Med Genet A. 2018. PMID: 30160830 No abstract available.

5

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Boycott KM, et al. Nat Rev Genet. 2013 Oct;14(10):681-91. doi: 10.1038/nrg3555. Epub 2013 Sep 3. Nat Rev Genet. 2013. PMID: 23999272 Review.

6

Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.

Smith A, Boycott KM, Jarinova O. Smith A, et al. Among authors: boycott km. Hum Mutat. 2014 Feb;35(2):265-9. doi: 10.1002/humu.22480. Epub 2013 Nov 27. Hum Mutat. 2014. PMID: 24282140

7

Identification of genes for childhood heritable diseases.

Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL. Boycott KM, et al. Annu Rev Med. 2014;65:19-31. doi: 10.1146/annurev-med-101712-122108. Annu Rev Med. 2014. PMID: 24422568 Review.

8

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM. McDonell LM, et al. Among authors: boycott km. BMC Neurol. 2014 Jan 31;14:22. doi: 10.1186/1471-2377-14-22. BMC Neurol. 2014. PMID: 24479948 Free PMC article.

9

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Ben Fadel N, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA. Richer J, et al. Among authors: boycott km. Am J Med Genet A. 2015 Jul;167(7):1654-8. doi: 10.1002/ajmg.a.37067. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899979

10

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium; Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. Smith AC, et al. Among authors: boycott km. J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706940

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