Thomas Nalpathamkalam

Thomas Nalpathamkalam

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Thomas Nalpathamkalam

Thomas Nalpathamkalam

Publications by authors named "Thomas Nalpathamkalam"

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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

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

MicroRNA Expression during Bovine Oocyte Maturation and Fertilization.

Int J Mol Sci 2016 Mar 18;17(3):396. Epub 2016 Mar 18.

Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.

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http://dx.doi.org/10.3390/ijms17030396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813251PMC
March 2016

The genetic diversity of Epstein-Barr virus in the setting of transplantation relative to non-transplant settings: A feasibility study.

Pediatr Transplant 2016 Feb 18;20(1):124-9. Epub 2015 Nov 18.

Division of Infectious Diseases, Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1111/petr.12610DOI Listing
February 2016

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda) 2015 Sep 16;5(11):2453-61. Epub 2015 Sep 16.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada Department of Psychiatry University of Toronto, Ontario, M5T 1R8 Canada, University of Toronto, Toronto, Ontario, Canada Department of Psychiatry, and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, M5S 2S1 Canada The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, M5G 2C4 Canada

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http://dx.doi.org/10.1534/g3.115.021345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632064PMC
September 2015

Whole-genome sequencing of quartet families with autism spectrum disorder.

Nat Med 2015 Feb 26;21(2):185-91. Epub 2015 Jan 26.

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

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http://dx.doi.org/10.1038/nm.3792DOI Listing
February 2015

Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation.

BMC Proc 2014 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S11. Epub 2014 Jun 17.

The Centre for Applied Genomics, The Hospital for Sick Children, 101 College Street, M5G 1L7 Toronto, ON, Canada ; Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, M5G 1L7 Toronto, ON, Canada.

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http://dx.doi.org/10.1186/1753-6561-8-S1-S11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143669PMC
December 2014

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

Nat Genet 2014 Jul 25;46(7):742-7. Epub 2014 May 25.

1] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. [3] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.2980DOI Listing
July 2014

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

RNA-Seq analysis of the parietal cortex in Alzheimer's disease reveals alternatively spliced isoforms related to lipid metabolism.

Neurosci Lett 2013 Mar 7;536:90-5. Epub 2013 Jan 7.

School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.

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http://dx.doi.org/10.1016/j.neulet.2012.12.042DOI Listing
March 2013