P. Ray

David T. W. Jones, Trevor J Pugh, Erwin G. Van Meir, 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

M. Shago, N. Alon, C. Hawkins, 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

H. Klamut, P. Ray, W. Biggar, 2002, Clinical orthopaedics and related research.

Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

R. Weksberg, S. Choufani, P. Ray, 2017, European Journal of Human Genetics.

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

R. Weksberg, E. Lemyre, Yi-an Chen, 2014, Human Genetics.

Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

C. Cytrynbaum, R. Weksberg, Yi-an Chen, 2013, American journal of medical genetics. Part A.

Reply to Brioude et al

R. Weksberg, S. Choufani, P. Ray, 2018, European Journal of Human Genetics.

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

J. Mendell, P. Ray, L. Simard, 1997, American journal of human genetics.

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

M. Shago, P. Hainaut, L. Hudgins, 2010, American journal of human genetics.

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

R. Hodges, D. Bulman, H. Klamut, 1988, Nature.

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

C. Marshall, P. Ray, S. Blaser, 2017, European Journal of Human Genetics.

WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma

David T. W. Jones, B. Alman, Erwin G. Van Meir, 2014, Acta neuropathologica communications.

WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma

David T. W. Jones, B. Alman, Erwin G. Van Meir, 2014, Acta Neuropathologica Communications.

Functional inactivation of bacteriophage λ morphogenetic gene mRNA

P. Ray, M. Pearson, 1975, Nature.

Molecular and Cellular Pathobiology Monoallelic Expression Determines Oncogenic Progression and Outcome in Benign and Malignant Brain Tumors

N. Alon, S. Croul, C. Hawkins, 2012 .

Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation.

Y. Pouliot, P. Ray, R. Worton, 1989, The American journal of pathology.

Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron‐microscopic cytochemical study

D. Bulman, P. Ray, R. Worton, 1990, Muscle & nerve.

Analysis of the glucocerebrosidase gene in Parkinson's disease

P. S. St George-Hyslop, Y. Meng, A. Lang, 2005, Movement disorders : official journal of the Movement Disorder Society.

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

David Malkin, Ana Novokmet, Adam Shlien, 2010, Cancer research.

Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data

Stephen W Scherer, Abdallah S Daar, S. Scherer, 2009, Pediatric Research.

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

B. Banwell, P. Ray, L. Kalia, 2017, Movement disorders : official journal of the Movement Disorder Society.

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

M. Corey, L. Tsui, J. Zieleński, 2005, Human Genetics.

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.

P. Ray, R. Worton, X. Hu, 1991, The EMBO journal.

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

C. Marshall, T. Paton, S. Bowdin, 2017, npj Genomic Medicine.

The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care

S. Bowdin, M. Meyn, P. Ray, 2014, Human mutation.

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

N. Alon, C. Hawkins, A. Shlien, 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

E. Sell, M. Tarnopolsky, W. Meschino, 2013, neurogenetics.

Dystrophin isoforms Dp71 and Dp427 have distinct roles in myogenic cells

H. Klamut, P. Ray, R. Austin, 1999, Muscle & nerve.

Reply to Migeon.

J. T. Clarke, C. P. Morris, R. Richards, 1993 .

Clinical and genetic study of hereditary spastic paraplegia in Canada

O. Suchowersky, G. Rouleau, K. Boycott, 2016, Neurology: Genetics.

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

P. Ray, J. Clarke, W. Greer, 1991, American journal of human genetics.

A Population-Based Study of Dystrophin Mutations in Canada

A. McCormick, M. Tarnopolsky, P. Ray, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants.

D. G. Green, V. Chapman, D. Hood, 1999, Molecular genetics and metabolism.

Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina.

P. Ray, R. Weleber, P. Howard, 1998, Human molecular genetics.

RNAseq analysis for the diagnosis of muscular dystrophy

Michael D. Wilson, Beryl B. Cummings, D. MacArthur, 2015, Annals of clinical and translational neurology.

Identification of deleterious synonymous variants in human genomes

Michael Brudno, Orion J. Buske, AshokKumar Manickaraj, 2013, Bioinform..

A cDNA clone from the Duchenne/Becker muscular dystrophy gene

P. Ray, R. Worton, A. Burghes, 1987, Nature.

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

C. Hawkins, B. Banwell, P. Ray, 2009, Neuromuscular Disorders.

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement

S. Bowdin, P. Ray, Liping Han, 2015, American journal of medical genetics. Part A.

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

C. P. Morris, R. Richards, G. Sutherland, 1992, American journal of human genetics.

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.

P. Ray, R. Schmickel, J. Sylvester, 1987, Science.

Shwachman–Diamond syndrome in India

P. Ray, D. Bansal, A. Saxena, 2012, Pediatric blood & cancer.

Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures.

P. Ray, R. Worton, C. Tennyson, 1996, Human molecular genetics.

The cycle of genome-directed medicine

S. Scherer, A. Carson, R. Weksberg, 2009, Genome Medicine.

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

Stephen W Scherer, S. Scherer, J. Vincent, 2003, Genomics.

Molecular deletion analysis in Duchenne muscular dystrophy.

P. Harper, P. Ray, R. Worton, 1986, Journal of medical genetics.

Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.

D. Bulman, P. Ray, R. Worton, 1989, American journal of human genetics.

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

P. Ray, A. Teebi, S. Kennedy, 2002, American journal of medical genetics.

Model for arrangement of minor structural proteins in head of bacteriophage λ

P. Ray, H. Murialdo, 1975, Nature.

Identification of Dp71 Isoforms in the Platelet Membrane Cytoskeleton

C. Ackerley, D. Bulman, P. Ray, 2002, The Journal of Biological Chemistry.

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

P. Ray, L. Huan, C. Bear, 2014, Genetics in Medicine.

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

C. Cytrynbaum, R. Weksberg, P. Ray, 2007, American journal of medical genetics. Part A.

Immunogold labelling of dystrophin in human muscle, using an antibody to the last 17 amino acids of the C-terminus

P. Ray, M. Cullen, R. Worton, 1991, Neuromuscular Disorders.

Dystrophin is tightly associated with the sarcolemma of mammalian skeletal muscle fibers.

R. Hodges, O. Hutter, D. Bulman, 1991, Experimental cell research.

Molecular analysis of X‐autosome translocations in females with Duchenne muscular dystrophy.

P. Ray, R. Worton, S. Bodrug, 1991, The EMBO journal.

Point mutation in the human dystrophin gene: identification through western blot analysis.

D. Bulman, S. Gangopadhyay, P. Ray, 1991, Genomics.

The problem of Duchenne muscular dystrophy.

M. W. Thompson, P. Ray, R. Worton, 1988, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

M. W. Thompson, P. Ray, R. Worton, 1986, Journal of medical genetics.

mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy.

D. G. Green, V. Chapman, W. Woodward, 1995, Investigative ophthalmology & visual science.

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

P. Ray, W. Halliday, G. Yoon, 2016, Journal of developmental and behavioral pediatrics : JDBP.

Myogenic regulation of dystrophin gene expression.

D. Bulman, H. Klamut, P. Ray, 1989, British medical bulletin.

The DMD gene promoter: a potential role in gene therapy.

H. Klamut, P. Ray, R. Worton, 1990, Advances in experimental medicine and biology.

Fine structure analysis of the Chinese hamster AS gene encoding asparagine synthetase.

I. Andrulis, L. Siminovitch, P. Ray, 1989, Gene.

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

C. Hawkins, P. Ray, J. Vajsar, 2012, Muscle & nerve.

PCR-based test for two cystic fibrosis mutations (A455E, 711 + 1 G-->T) common among French Canadians.

P. Ray, L. McGlynn-Steele, P. Strasberg, 1997, Clinical chemistry.

American Society of Colon and Rectal Surgeons 91st Annual Convention Podium and Poster abstracts

P. M. Falk, L. K. Harding, T. G. Perry, 1992 .

Developmentally Delayed Males

D. Allingham-Hawkins, P. Ray, 2007 .

Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making.

T. Stockley, P. Ray, T. Prior, 2002, American journal of medical genetics.

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

S. Scherer, C. Marshall, T. Paton, 2017, npj Genomic Medicine.

Genetic and biochemical determinations in the pre-transplant workup and in the post-transplant assessment period.

D. Bulman, P. Ray, R. Worton, 1990, Advances in experimental medicine and biology.

Functional inactivation of bacteriophage lambda morphogenetic gene in RNA.

P. Ray, M. Pearson, 1975, Nature.

Monozygotic twins discordant for Aicardi syndrome.

P. Ray, J. R. Buncic, W. Greer, 1997, Journal of medical genetics.

FRAXE expansion is not a common etiological factor among developmentally delayed males.

D. Allingham-Hawkins, P. Ray, 1995, American journal of human genetics.

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

S. Scherer, J. Skinner, A. Krahn, 2013, Human Genetics.

Combined use of molecular and biomarkers for presymptomatic carrier risk assessment in familial adenomatous polyposis: Implications for screening guidelines

Z. Cohen, R. McLeod, P. Ray, 1994, Diseases of the colon and rectum.

Canavan disease: Carrier‐frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay

D. Chitayat, P. Ray, A. Feigenbaum, 2004, American journal of medical genetics. Part A.

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

S. Scherer, C. Marshall, T. Paton, 2015, BMC Genomics.

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

P. Ray, K. Swoboda, J. Vajsar, 2008, Neuromuscular Disorders.

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

P. Bauer, R. Heller, P. Ray, 2016 .

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

P. Bauer, R. Heller, P. Ray, 2016, Human mutation.

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

D. Chitayat, P. Ray, S. Blaser, 2013, Pediatric neurology.

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

M. Corey, J. Zieleński, K. Jarvi, 2013, Thorax.

Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibs.

P. S. St George-Hyslop, L. Farrer, P. Ray, 1992, American journal of medical genetics.

Dystrophin analysis in the diagnosis of childhood muscular dystrophy: an immunohistochemical study of 75 cases.

C. Ackerley, V. Jay, P. Ray, 1993, Pediatric pathology.

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

C. Marshall, L. Hazrati, P. Ray, 2017, Neuromuscular Disorders.

Isolation of mutants of CHO cells resistant to 6 (p-hydroxyphenylazo)-uracil II. Mutants auxotrophic for deoxypyrimidines

P. Ray, Louis Siminovitch, Enrico Arpaia, 1983, Somatic cell genetics.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

R. Weksberg, J. Squire, P. Ray, 2001, Human molecular genetics.

BI-21BRAF MUTATION AND CDKN2A DELETIONS DEFINE A CLINICALLY DISTINCT SUBGROUP OF CHILDHOOD SECONDARY HIGH GRADE GLIOMA

D. Merico, M. Shago, J. Rutka, 2014 .

Etiology of intellectual impairment in Duchenne muscular dystrophy.

M. Dennis, S. Chuang, P. Ray, 1990, Pediatric neurology.

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome

R. Weksberg, P. Ray, C. Shuman, 2006, Cytogenetic and Genome Research.

Monoallelic expression determines oncogenic progression and outcome in benign and malignant brain tumors.

N. Alon, S. Croul, C. Hawkins, 2012, Cancer research.

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

M. Corey, J. Zieleński, K. Jarvi, 2013, Thorax.

Brain abnormalities in patients with Beckwith–Wiedemann syndrome

R. Weksberg, S. Pu, S. Wodak, 2012, American journal of medical genetics. Part A.

Reply to Brioude et al

R. Weksberg, S. Choufani, P. Ray, 2018, European Journal of Human Genetics.

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

A. Shlien, D. Malkin, P. Ray, 2010, Cancer research.