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Items: 12


Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S; Care4Rare Canada Consortium., Boycott KM, Chitayat D.

Clin Genet. 2016 Oct 8. doi: 10.1111/cge.12884.


Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P; Care4Rare Canada Consortium., Boycott KM, Warman-Chardon J, Sadikovic B.

Clin Epigenetics. 2016 Sep 5;8:91. doi: 10.1186/s13148-016-0254-x.


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.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.


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.

Hum Mol Genet. 2015 Nov 15;24(22):6293-300. doi: 10.1093/hmg/ddv337.


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

McDonell LM, Kernohan KD, Boycott KM, Sawyer SL.

Hum Mol Genet. 2015 Oct 15;24(R1):R60-6. doi: 10.1093/hmg/ddv254. Review.

Free PMC Article

ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions.

Levy MA, Kernohan KD, Jiang Y, Bérubé NG.

Hum Mol Genet. 2015 Apr 1;24(7):1824-35. doi: 10.1093/hmg/ddu596.


Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping.

Kernohan KD, Vernimmen D, Gloor GB, Bérubé NG.

Nucleic Acids Res. 2014 Jul;42(13):8356-68. doi: 10.1093/nar/gku564.


Dual effect of CTCF loss on neuroprogenitor differentiation and survival.

Watson LA, Wang X, Elbert A, Kernohan KD, Galjart N, Bérubé NG.

J Neurosci. 2014 Feb 19;34(8):2860-70. doi: 10.1523/JNEUROSCI.3769-13.2014.


Three dimensional dual labelled DNA fluorescent in situ hybridization analysis in fixed tissue sections.

Kernohan KD, Bérubé NG.

MethodsX. 2014 May 9;1:30-5. doi: 10.1016/j.mex.2014.04.001.


Genetic and epigenetic dysregulation of imprinted genes in the brain.

Kernohan KD, Bérubé NG.

Epigenomics. 2010 Dec;2(6):743-63. doi: 10.2217/epi.10.61. Review.


Stanniocalcin 2 alters PERK signalling and reduces cellular injury during cerulein induced pancreatitis in mice.

Fazio EN, Dimattia GE, Chadi SA, Kernohan KD, Pin CL.

BMC Cell Biol. 2011 May 5;12:17. doi: 10.1186/1471-2121-12-17.


ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain.

Kernohan KD, Jiang Y, Tremblay DC, Bonvissuto AC, Eubanks JH, Mann MR, Bérubé NG.

Dev Cell. 2010 Feb 16;18(2):191-202. doi: 10.1016/j.devcel.2009.12.017.

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