Peter N Ray

Peter N Ray

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Peter N Ray

Peter N Ray

Publications by authors named "Peter N Ray"

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Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism.

Mov Disord 2017 12 30;32(12):1792-1794. Epub 2017 Oct 30.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.27188DOI Listing
December 2017

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Neuromuscul Disord 2017 Jun 8;27(6):574-580. Epub 2017 Feb 8.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.001DOI Listing
June 2017

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

Eur J Hum Genet 2017 06 5;25(6):775-778. Epub 2017 Apr 5.

Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2017.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477367PMC
June 2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

NPJ Genom Med 2017 26;2:19. Epub 2017 May 26.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada M5G 1X8.

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http://dx.doi.org/10.1038/s41525-017-0021-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677914PMC
May 2017

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.

Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141523PMC
February 2017

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

J Dev Behav Pediatr 2016 Apr;37(3):239-44

*Division of Developmental Paediatrics, Department of Paediatrics, University of Toronto, Toronto, ON, Canada; †Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada; ‡Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; §Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ‖Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ¶Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada; **Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DBP.0000000000000262DOI Listing
April 2016

RNAseq analysis for the diagnosis of muscular dystrophy.

Ann Clin Transl Neurol 2016 01 8;3(1):55-60. Epub 2015 Dec 8.

Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.

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http://dx.doi.org/10.1002/acn3.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476PMC
January 2016

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Am J Med Genet A 2015 Nov 22;167A(11):2544-7. Epub 2015 Jun 22.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37218DOI Listing
November 2015

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda) 2015 Jul 2;5(8):1775-81. Epub 2015 Jul 2.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Pediatrics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1534/g3.115.019851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333PMC
July 2015

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.

J Clin Oncol 2015 Mar 9;33(9):1015-22. Epub 2015 Feb 9.

Matthew Mistry, Nataliya Zhukova, Daniele Merico, Rahul Krishnatry, Mary Shago, James Stavropoulos, Noa Alon, Peter N. Ray, Vilma Navickiene, Joshua Mangerel, Marc Remke, Vijay Ramaswamy, Ana Guerreiro Stucklin, Martin Li, Edwin J. Young, Cindy Zhang, Pedro Castelo-Branco, Doua Bakry, Suzanne Laughlin, James T. Rutka, Peter B. Dirks, Michael D. Taylor, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori; The Hospital for Sick Children; Matthew Mistry, Patricia Rakopoulos, Rahul Krishnatry, Joshua Mangerel, Pawel Buczkowicz, Ana Guerreiro Stucklin, Doua Bakry, Adam Shlien, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori, University of Toronto; Jason D. Pole, Pediatric Oncology Group of Ontario, Toronto, Ontario; Jennifer Chan, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada; Pedro Castelo-Branco, Universidade do Algarve, Faro, Portugal; Keith L. Ligon, Dana-Farber/Boston Children's Cancer Center, Boston, MA.

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http://dx.doi.org/10.1200/JCO.2014.58.3922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356711PMC
March 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

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.

The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mgg3.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303224PMC
November 2014

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.

Genet Med 2014 Aug 20;16(8):625-32. Epub 2014 Feb 20.

1] Programme in Molecular Structure and Function, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada [2] Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada [3] Department of Physiology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.4DOI Listing
August 2014

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Hum Mutat 2014 May 7;35(5):513-9. Epub 2014 Apr 7.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22536DOI Listing
May 2014

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Hum Genet 2014 Mar 24;133(3):321-30. Epub 2013 Oct 24.

The Rudbeck Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-013-1379-zDOI Listing
March 2014

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

JIMD Rep 2014 31;12:79-84. Epub 2013 Jul 31.

Division of Metabolics and Newborn Screening, University of Ottawa, Children's Hospital of Eastern Ontario, 401 Smyth Road, K1H 8L1, Ottawa, ON, Canada.

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http://dx.doi.org/10.1007/8904_2013_247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797PMC
January 2014

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

Pediatr Neurol 2013 Nov;49(5):374-8

Division of Neurology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.06.022DOI Listing
November 2013

PhenoTips: patient phenotyping software for clinical and research use.

Hum Mutat 2013 Aug 24;34(8):1057-65. Epub 2013 May 24.

Department of Computer Science, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22347DOI Listing
August 2013

Identification of deleterious synonymous variants in human genomes.

Bioinformatics 2013 Aug 4;29(15):1843-50. Epub 2013 Jun 4.

Department of Computer Science, University of Toronto, Toronto, ON M5S 3H5, Canada.

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http://dx.doi.org/10.1093/bioinformatics/btt308DOI Listing
August 2013

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Muscle Nerve 2012 May;45(5):752-5

Neurology Division, Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/mus.23274
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http://dx.doi.org/10.1002/mus.23274DOI Listing
May 2012

A population-based study of dystrophin mutations in Canada.

Can J Neurol Sci 2011 May;38(3):465-74

Division of Neurology, Department of Paediatrics, University of Calgary, Alberta Children's Hospital, Calgary.

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http://dx.doi.org/10.1017/s0317167100011896DOI Listing
May 2011

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Neuromuscul Disord 2011 Mar 4;21(3):178-82. Epub 2010 Dec 4.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.11.008DOI Listing
March 2011

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Am J Med Genet A 2010 Jul;152A(7):1808-11

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33462
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http://dx.doi.org/10.1002/ajmg.a.33462DOI Listing
July 2010

Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations.

J Clin Oncol 2010 Mar 8;28(8):1345-50. Epub 2010 Feb 8.

Divisions of Haematology/Oncology, The LabattBrain Tumor Research Centre, TheHospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1200/JCO.2009.23.5952DOI Listing
March 2010

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

Cancer Res 2010 Jan;70(1):160-71

Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-1902DOI Listing
January 2010

Whole genome scanning: resolving clinical diagnosis and management amidst complex data.

Pediatr Res 2009 Oct;66(4):357-63

McLaughlin-Rotman Centre for Global Health, University Health Network and University of Toronto, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1203/PDR.0b013e3181b0cbd8DOI Listing
October 2009

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

Neuromuscul Disord 2009 Mar 18;19(3):189-92. Epub 2009 Feb 18.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966080068
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http://dx.doi.org/10.1016/j.nmd.2008.11.003DOI Listing
March 2009

The cycle of genome-directed medicine.

Genome Med 2009 Feb 2;1(2):16. Epub 2009 Feb 2.

The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm1
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http://dx.doi.org/10.1186/gm16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664949PMC
February 2009

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Neuromuscul Disord 2008 Aug 18;18(8):675-7. Epub 2008 Jul 18.

Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.nmd.2008.05.014DOI Listing
August 2008

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

Genet Test 2006 ;10(4):229-43

Molecular Genetics Laboratory, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1089/gte.2006.10.229DOI Listing
April 2007

Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia.

Pediatr Neurol 2006 Aug;35(2):145-9

Division Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.01.004DOI Listing
August 2006

Analysis of the glucocerebrosidase gene in Parkinson's disease.

Mov Disord 2005 Mar;20(3):367-70

Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.20319DOI Listing
March 2005

Providing information at the point of care: educational diagnostic reports from a genetic testing service provider.

Clin Leadersh Manag Rev 2004 Jan-Feb;18(1):11-24

York University, Toronto, Ontario, Canada.

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March 2004

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Am J Med Genet A 2004 Jan;124A(2):142-7

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital For Sick Children, The University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20334DOI Listing
January 2004

Screening of patients with craniosynostosis: molecular strategy.

Am J Med Genet A 2003 Aug;120A(4):470-3

Departments of Genetics and Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.20258
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http://dx.doi.org/10.1002/ajmg.a.20258DOI Listing
August 2003

Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.

Methods Mol Biol 2003 ;217:131-41

Division of Molecular Genetics, Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1385/1-59259-330-5:131DOI Listing
April 2003

Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.

Genomics 2003 Mar;81(3):279-91

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

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http://dx.doi.org/10.1016/s0888-7543(02)00040-xDOI Listing
March 2003

Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion.

J Biol Chem 2002 Dec 4;277(49):47106-13. Epub 2002 Oct 4.

Department of Pathology, McMaster University and the Henderson Research Centre, Hamilton, Ontario L8V 1C3, Canada.

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http://dx.doi.org/10.1074/jbc.M203289200DOI Listing
December 2002

Duchenne muscular dystrophy: current knowledge, treatment, and future prospects.

Clin Orthop Relat Res 2002 Aug(401):88-106

Bloorview MacMillan Children's Centre and Department of Paediatrics, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/00003086-200208000-00012DOI Listing
August 2002

Gene patents and the standard of care.

CMAJ 2002 Aug;167(3):256-7

Faculty of Law, McGill University, Montreal, Que.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC117472PMC
August 2002

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Am J Med Genet 2002 Jun;110(2):136-43

Department of Pediatric Laboratory Medicine, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.10400DOI Listing
June 2002

Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.

Am J Med Genet 2002 Jan;107(1):43-7

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.10125DOI Listing
January 2002