Jeffrey R MacDonald

Jeffrey R MacDonald

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Jeffrey R MacDonald

Jeffrey R MacDonald

Publications by authors named "Jeffrey R MacDonald"

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The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):93-100. Epub 2017 Nov 20.

Pediatric Health Care Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.

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http://dx.doi.org/10.1002/ajmg.b.32608DOI Listing
January 2018

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Am J Hum Genet 2018 01;102(1):142-155

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777982PMC
January 2018

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

Nat Neurosci 2017 Apr 6;20(4):602-611. Epub 2017 Mar 6.

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1038/nn.4524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501701PMC
April 2017

A copy number variation map of the human genome.

Nat Rev Genet 2015 03 3;16(3):172-83. Epub 2015 Feb 3.

1] The Centre for Applied Genomics, and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada. [2] McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1038/nrg3871DOI Listing
March 2015

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

Fertil Steril 2014 Apr 23;101(4):1079-1085.e3. Epub 2014 Jan 23.

Program in Genetics and Genome Biology, Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2013.12.027DOI Listing
April 2014

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

Nucleic Acids Res 2014 Jan 29;42(Database issue):D986-92. Epub 2013 Oct 29.

The Centre for Applied Genomics, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario M5G 0A4, Canada, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala SE-751 08, Sweden and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1093/nar/gkt958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965079PMC
January 2014

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

G3 (Bethesda) 2014 Jan 10;4(1):63-5. Epub 2014 Jan 10.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1534/g3.113.008797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887540PMC
January 2014

Mechanisms of formation of structural variation in a fully sequenced human genome.

Hum Mutat 2013 Feb 19;34(2):345-54. Epub 2012 Nov 19.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22240DOI Listing
February 2013

Molecular characterization of a t(2;7) translocation linking CDK6 to the IGK locus in CD5(-) monoclonal B-cell lymphocytosis.

Cancer Genet 2011 May;204(5):260-4

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.cancergen.2011.03.004DOI Listing
May 2011

Towards a comprehensive structural variation map of an individual human genome.

Genome Biol 2010 19;11(5):R52. Epub 2010 May 19.

Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1186/gb-2010-11-5-r52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898065PMC
September 2010

Genome assembly comparison identifies structural variants in the human genome.

Nat Genet 2006 Dec 22;38(12):1413-8. Epub 2006 Nov 22.

Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada.

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http://www.nature.com/articles/ng1921
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http://dx.doi.org/10.1038/ng1921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674632PMC
December 2006

Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes.

Methods Mol Biol 2006 ;338:9-20

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1385/1-59745-097-9:9DOI Listing
September 2006

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

PLoS Genet 2005 Oct 28;1(4):e56. Epub 2005 Oct 28.

The Centre for Applied Genomics, Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.plos.org/10.1371/journal.pgen.0010056
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.0010056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1270012PMC
October 2005

Recent segmental and gene duplications in the mouse genome.

Genome Biol 2003 9;4(8):R47. Epub 2003 Jul 9.

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1186/gb-2003-4-8-r47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC193640PMC
November 2003

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.

Genome Biol 2003 17;4(4):R25. Epub 2003 Mar 17.

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC154576PMC
http://dx.doi.org/10.1186/gb-2003-4-4-r25DOI Listing
May 2003