Publications by authors named "Richard Wintle"

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Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.
Sara A Lewis, Maya Chopra, Julie S Cohen, Jennifer M Bain, Bhooma Aravamuthan, Richard F Wintle

JAMA Pediatr· February 2025

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Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics.
Si Lok, Timothy N H Lau, Brett Trost, Amy H Y Tong, Tara Paton, Richard F Wintle

Sci Rep· September 2024

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Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.
Leo McKay, Berardino Petrelli, Molly Pind, James N Reynolds, Richard F Wintle

Biomolecules· May 2024

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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Richard F Wintle

Nat Genet· April 2024

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The development of the pediatric stroke neuroimaging platform (PEDSNIP).
Trish Domi, Amanda Robertson, Wayne Lee, Richard F Wintle, Nicholas Stence

Neuroimage Clin· September 2023

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Clinical actionability of genetic findings in cerebral palsy.
Sara A Lewis, Maya Chopra, Julie S Cohen, Jennifer Bain, Bhooma Aravamuthan, Richard F Wintle

medRxiv· September 2023

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Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edward J Higginbotham, John Wei, Richard F Wintle

Hum Mol Genet· July 2023

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Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Brett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, Worrawat Engchuan, Edward J Higginbotham, Richard F Wintle

Cell· November 2022

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Chromosomal-level reference genome assembly of the North American wolverine (Gulo gulo luscus): a resource for conservation genomics.
Si Lok, Timothy N H Lau, Brett Trost, Amy H Y Tong, Richard F Wintle

G3 (Bethesda)· July 2022

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Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Marc Woodbury-Smith, Sylvia Lamoureux, Ghausia Begum, Nasna Nassir, Hosneara Akter, Richard F Wintle

Genes (Basel)· January 2022

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A Distributed Whole Genome Sequencing Benchmark Study.
Richard D Corbett, Robert Eveleigh, Joe Whitney, Namrata Barai, Mathieu Bourgey, Richard F Wintle

Front Genet· December 2020

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Associations of clinical and inflammatory biomarker clusters with juvenile idiopathic arthritis categories.
Elham Rezaei, Daniel Hogan, Brett Trost, Anthony J Kusalik, Gilles Boire, Richard F Wintle

Rheumatology (Oxford)· May 2020

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VikNGS: a C++ variant integration kit for next generation sequencing association analysis.
Zeynep Baskurt, Scott Mastromatteo, Jiafen Gong, Richard F Wintle, Stephen W Scherer

Bioinformatics· February 2020

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A large data resource of genomic copy number variation across neurodevelopmental disorders.
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edwin J Young, Edward J Higginbotham, Richard F Wintle

NPJ Genom Med· October 2019

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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
Alastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, Michael Fahey, Richard J Leventer, Richard F Wintle

J Child Neurol· July 2019

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Copy number variation in fetal alcohol spectrum disorder.
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Richard F Wintle

Biochem Cell Biol· April 2018

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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Richard F Wintle

Genet Med· February 2018

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Cerebral palsy and genomics: an international consortium.
Alastair H MacLennan, Michael C Kruer, Gareth Baynam, Andres Moreno-De-Luca, Yana A Wilson, Richard F Wintle

Dev Med Child Neurol· February 2018

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The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Richard F Wintle

CMAJ· February 2018

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Genome and Transcriptome Assembly of the Canadian Beaver ().
Si Lok, Tara A Paton, Zhuozhi Wang, Gaganjot Kaur, Susan Walker, Richard F Wintle

G3 (Bethesda)· February 2017

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Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Jerry W. Shay, Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Richard F. Wintle

BMC Genomics· July 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, Richard F Wintle

BMC Genomics· January 2016

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A high-resolution copy-number variation resource for clinical and population genetics.
Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, Zhuozhi Wang, Pingzhao Hu, Richard F Wintle

Genet Med· September 2015

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Clinically relevant copy number variations detected in cerebral palsy.
Maryam Oskoui, Matthew J Gazzellone, Bhooma Thiruvahindrapuram, Mehdi Zarrei, John Andersen, Richard F Wintle

Nat Commun· August 2015

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FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Chandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E Samuels, Bridget A Fernandez, Richard F Wintle

Am J Hum Genet· June 2014

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