Kristin D Kernohan

Kristin D Kernohan

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Kristin D Kernohan

Kristin D Kernohan

Publications by authors named "Kristin D Kernohan"

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33Publications

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p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Clin Genet 2019 Nov 13;96(5):449-455. Epub 2019 Aug 13.

Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1111/cge.13618DOI Listing
November 2019

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Clin Genet 2019 05 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1111/cge.13523DOI Listing
May 2019

Lysosomal dysfunction in hypomyelinating leukodystrophy.

Neurol Genet 2018 Dec 13;4(6):e288. Epub 2018 Nov 13.

Children's Hospital of Eastern Ontario Research Institute (Y.I., T.H., S.B., K.M.B., D.A.D., K.D.K.), Ottawa, Ontario, Canada; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Institute for Molecular Bioscience (C.S.), University of Queensland, St. Lucia, Queensland, Australia; and Department of Child Neurology (N.I.W.), VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317987PMC
December 2018

Periodic breathing in patients with NALCN mutations.

J Hum Genet 2018 Oct 3;63(10):1093-1096. Epub 2018 Jul 3.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/s10038-018-0484-1DOI Listing
October 2018

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

Am J Hum Genet 2018 10 13;103(4):474-483. Epub 2018 Sep 13.

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2018.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174354PMC
October 2018

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.

Eur J Med Genet 2018 Feb 21;61(2):89-93. Epub 2017 Oct 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.011DOI Listing
February 2018

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Hum Mutat 2018 02 14;39(2):197-201. Epub 2017 Dec 14.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.23374DOI Listing
February 2018

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Am J Hum Genet 2018 01;102(1):156-174

Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777983PMC
January 2018

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

Pediatr Blood Cancer 2017 Dec 16;64(12). Epub 2017 May 16.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/pbc.26633DOI Listing
December 2017

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

Hum Mol Genet 2015 Nov 24;24(22):6293-300. Epub 2015 Aug 24.

Children's Hospital of Eastern Ontario Research Institute, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1

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http://dx.doi.org/10.1093/hmg/ddv337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614701PMC
November 2015

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

Hum Mol Genet 2015 Oct 7;24(R1):R60-6. Epub 2015 Jul 7.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1093/hmg/ddv254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572000PMC
October 2015

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

MethodsX 2014 9;1:30-5. Epub 2014 May 9.

Departments of Biochemistry and Paediatrics, Western University, Victoria Research Laboratories, 800 Commissioners Road East, London, Canada ; Children's Health Research Institute, London, Canada ; Lawson Health Research Institute, London, Canada.

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http://dx.doi.org/10.1016/j.mex.2014.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472834PMC
July 2015

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

Hum Mol Genet 2015 Apr 1;24(7):1824-35. Epub 2014 Dec 1.

Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada N6A 5C1, Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada N6A 5C1 Children's Health Research Institute, London, Ontario, Canada N6C 2V5

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http://dx.doi.org/10.1093/hmg/ddu596DOI Listing
April 2015

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

Nucleic Acids Res 2014 Jul 2;42(13):8356-68. Epub 2014 Jul 2.

Department of Biochemistry, University of Western Ontario, London N6C 2V5, Canada Children's Health Research Institute, London, Canada Department of Paediatrics, University of Western Ontario, London N6C 2V5, Canada

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http://nar.oxfordjournals.org/content/early/2014/07/18/nar.g
Web Search
http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gku564
Publisher Site
http://dx.doi.org/10.1093/nar/gku564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117782PMC
July 2014

Dual effect of CTCF loss on neuroprogenitor differentiation and survival.

J Neurosci 2014 Feb;34(8):2860-70

Departments of Paediatrics and Biochemistry, The University of Western Ontario and Children's Health Research Institute, London, Ontario N6C 2V5, Canada and Medical Genetics Centre Department of Cell Biology and Genetics, Erasmus University, 3000 CA, Rotterdam, The Netherlands.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.3769-13.2
Publisher Site
http://dx.doi.org/10.1523/JNEUROSCI.3769-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608523PMC
February 2014

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

BMC Cell Biol 2011 May 5;12:17. Epub 2011 May 5.

Department of Paediatrics, The University of Western Ontario, London, Ontario, N6A 3K7, Canada.

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http://dx.doi.org/10.1186/1471-2121-12-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224136PMC
May 2011

Genetic and epigenetic dysregulation of imprinted genes in the brain.

Epigenomics 2010 Dec;2(6):743-63

Department of Paediatrics & Biochemistry, University of Western Ontario, London, ON, Canada.

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http://dx.doi.org/10.2217/epi.10.61DOI Listing
December 2010