Publications by authors named "Jennifer Kerkhof"

15Publications

Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.

FASEB J 2020 Jul 22;34(7):9297-9306. Epub 2020 May 22.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, ON, Canada.

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http://dx.doi.org/10.1096/fj.202000463RDOI Listing
July 2020

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.

J Med Genet 2020 May 6. Epub 2020 May 6.

Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences Centre, London, Ontario, Canada

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http://dx.doi.org/10.1136/jmedgenet-2019-106641DOI Listing
May 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Hum Mutat 2019 10 3;40(10):1684-1689. Epub 2019 Jul 3.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.23833DOI Listing
October 2019

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.

J Mol Diagn 2017 11 15;19(6):905-920. Epub 2017 Aug 15.

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

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http://dx.doi.org/10.1016/j.jmoldx.2017.07.004DOI Listing
November 2017

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

J Mol Diagn 2016 09 2;18(5):657-667. Epub 2016 Jul 2.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.04.002DOI Listing
September 2016