Publications by authors named "Peter N Ray"

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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Peter N Ray

Hum Mol Genet· January 2019

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, Rayfel Schneider, Peter N Ray

Genet Med· April 2018

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Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism.
Berivan Baskin, Lorraine V Kalia, Brenda L Banwell, Peter N Ray, Grace Yoon

Mov Disord· December 2017

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Orkambi® and amplifier co-therapy improves function from a rare mutation in gene-edited cells and patient tissue.
Steven V Molinski, Saumel Ahmadi, Wan Ip, Hong Ouyang, Adriana Villella, Peter N Ray

EMBO Mol Med· September 2017

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Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.
Hernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, Lili-Naz Hazrati, Michael G Thor, Peter N Ray

Neuromuscul Disord· June 2017

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Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon

Eur J Hum Genet· June 2017

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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
Iris Cohn, Tara A Paton, Christian R Marshall, Raveen Basran, Dimitri J Stavropoulos, Peter N Ray

NPJ Genom Med· May 2017

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Clinical and genetic study of hereditary spastic paraplegia in Canada.
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Peter N Ray

Neurol Genet· February 2017

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Sven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, Sophie Hinreiner, Grace Yoon, Peter N Ray

Hum Mutat· July 2016

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A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.
Rudaina Banihani, Berivan Baskin, William Halliday, Jeff Kobayashi, Anne Kawamura, Peter N Ray

J Dev Behav Pediatr· April 2016

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Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
Christian R Marshall, Sandra A Farrell, Donna Cushing, Tara Paton, Tracy L Stockley, Peter N Ray

BMC Genomics· January 2016

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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Raymond Kim, Peter N Ray

NPJ Genom Med· January 2016

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RNAseq analysis for the diagnosis of muscular dystrophy.
Hernan Gonorazky, Minggao Liang, Beryl Cummings, Monkol Lek, Johann Micallef, Peter N Ray

Ann Clin Transl Neurol· January 2016

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Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
Ayeshah Chaudhry, Peter Sabatini, Liping Han, Peter N Ray, Christopher Forrest

Am J Med Genet A· November 2015

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Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Christian R Marshall, Stephen W Scherer, Maimoona A Zariwala, Lynette Lau, Tara A Paton, Peter N Ray, Raymond H Kim

G3 (Bethesda)· July 2015

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Identification of deleterious synonymous variants in human genomes.
Orion J Buske, AshokKumar Manickaraj, Seema Mital, Peter N Ray, Michael Brudno

Bioinformatics· March 2015

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BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.
Matthew Mistry, Nataliya Zhukova, Daniele Merico, Patricia Rakopoulos, Rahul Krishnatry, Peter N Ray

J Clin Oncol· March 2015

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Whole-genome sequencing of quartet families with autism spectrum disorder.
Ryan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, Susan Walker, Kristiina Tammimies, Peter N Ray

Nat Med· February 2015

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WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma.
Nataliya Zhukova, Vijay Ramaswamy, Marc Remke, Dianna C Martin, Pedro Castelo-Branco, Raymond Poon, Peter N Ray

Acta Neuropathol Commun· December 2014

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Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.
Berivan Baskin, Dimitri J Stavropoulos, Paige A Rebeiro, Jennifer Orr, Martin Li, Peter N Ray

Mol Genet Genomic Med· November 2014

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Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.
Steven V Molinski, Tanja Gonska, Ling Jun Huan, Berivan Baskin, Ibrahim A Janahi, Peter N Ray

Genet Med· August 2014

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The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.
Sarah Bowdin, Peter N Ray, Ronald D Cohn, M Stephen Meyn

Hum Mutat· May 2014

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Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Chee Y Ooi, Annie Dupuis, Lynda Ellis, Keith Jarvi, Sheelagh Martin, Peter N Ray

Thorax· March 2014

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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Berivan Baskin, Sanaa Choufani, Yi-An Chen, Cheryl Shuman, Nicole Parkinson, Peter N Ray

Hum Genet· March 2014

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Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
Maina Kava, David Chitayat, Susan Blaser, Peter N Ray, Jiri Vajsar

Pediatr Neurol· November 2013

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