User profiles for Richard F. Wintle
 | Wintle, Richard F.Assistant Director, The Centre for Applied Genomics Verified email at sickkids.ca Cited by 3833 |
Functional variants of OCTN cation transporter genes are associated with Crohn disease
Crohn disease is a chronic, inflammatory disease of the gastrointestinal tract. A locus of ∼250
kb at 5q31 (IBD5) 1 , 2 was previously associated with susceptibility to Crohn disease, as …
kb at 5q31 (IBD5) 1 , 2 was previously associated with susceptibility to Crohn disease, as …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
…, K Ho, T Paton, SL Pereira, JA Herbrick, RF Wintle… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …
Structural variants: changing the landscape of chromosomes and design of disease studies
The near completeness of human chromosome sequences is facilitating accurate
characterization and assessment of all classes of genomic variation. Particularly, using the DNA …
characterization and assessment of all classes of genomic variation. Particularly, using the DNA …
[PDF][PDF] FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …
their families. Over half of the children living with one of these conditions are without a …
Dopamine modulates the plasticity of mechanosensory responses in Caenorhabditis elegans
Dopamine‐modulated behaviors, including information processing and reward, are subject
to behavioral plasticity. Disruption of these behaviors is thought to support drug addictions …
to behavioral plasticity. Disruption of these behaviors is thought to support drug addictions …
Clinically relevant copy number variations detected in cerebral palsy
Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous
disorders that are characterized by motor impairment and early age of onset, frequently …
disorders that are characterized by motor impairment and early age of onset, frequently …
A large data resource of genomic copy number variation across neurodevelopmental disorders
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …
Genetic or other causation should not change the clinical diagnosis of cerebral palsy
High throughput sequencing is discovering many likely causative genetic variants in individuals
with cerebral palsy. Some investigators have suggested that this changes the clinical …
with cerebral palsy. Some investigators have suggested that this changes the clinical …
Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations
M Van Oene, RF Wintle, X Liu… - Arthritis & …, 2005 - Wiley Online Library
Objective A single‐nucleotide polymorphism in the PTPN22 gene encoding the lymphoid
protein tyrosine phosphatase (Lyp) has recently been identified as a functional variant …
protein tyrosine phosphatase (Lyp) has recently been identified as a functional variant …
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
…, J Gauthier, K Uguen, DJ Stavropoulos, RF Wintle… - Nature Genetics, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/…
and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/…
