Boycott KM - Search Results

1

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Ferreira P, Luco SM, Sawyer SL, Davila J, Boycott KM, Dyment DA. Ferreira P, et al. Among authors: boycott km. Neurol Genet. 2015 Dec 22;2(1):e38. doi: 10.1212/NXG.0000000000000038. eCollection 2016 Feb. Neurol Genet. 2015. PMID: 27066576 Free PMC article.

2

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium; Majewski J, Boycott KM, Screaton RA, Nicholson G. Sawyer SL, et al. Among authors: boycott km. Hum Mol Genet. 2015 Sep 15;24(18):5109-14. doi: 10.1093/hmg/ddv229. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085578

3

Recent advances in the genetic etiology of brain malformations.

Dyment DA, Sawyer SL, Warman-Chardon J, Boycott KM. Dyment DA, et al. Among authors: boycott km. Curr Neurol Neurosci Rep. 2013 Aug;13(8):364. doi: 10.1007/s11910-013-0364-1. Curr Neurol Neurosci Rep. 2013. PMID: 23793931 Review.

4

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.

5

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA; FORGE Canada Consortium; Majewski J, Bulman D, Boycott KM, Dyment DA. Venkateswaran S, et al. Among authors: boycott km. Epilepsia. 2014 Jul;55(7):e75-9. doi: 10.1111/epi.12663. Epub 2014 Jun 5. Epilepsia. 2014. PMID: 24903190 Free article.

6

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM, Kernohan KD, Boycott KM, Sawyer SL. McDonell LM, et al. Among authors: boycott km. Hum Mol Genet. 2015 Oct 15;24(R1):R60-6. doi: 10.1093/hmg/ddv254. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152202 Free PMC article. Review.

7

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.

8

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT; FORGE Canada Consortium; Care4Rare Canada Consortium; Hartley T, Boycott KM. Hamilton A, et al. Among authors: boycott km. Mol Genet Genomic Med. 2016 May 10;4(5):504-12. doi: 10.1002/mgg3.223. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27652278 Free PMC article.

9

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Bhola PT, Hartley T, Bareke E; Care4Rare Canada Consortium; Boycott KM, Nikkel SM, Dyment DA. Bhola PT, et al. Among authors: boycott km. J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23. J Hum Genet. 2017. PMID: 28228640

10

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

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