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List of works by Ryan Yuen

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

scientific article published in January 2018

A framework for an evidence-based gene list relevant to autism spectrum disorder

scientific article published on 21 April 2020

A large data resource of genomic copy number variation across neurodevelopmental disorders

scientific article published on 07 October 2019

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.

scientific article published on 21 February 2018

Are we ready for DNA methylation-based prenatal testing?

scientific article published on 01 August 2011

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

scientific article

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

scientific article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

scientific article

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants

scientific article published on November 2016

DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia

scientific article

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

scientific article

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

scientific article published on 11 July 2013

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis

scientific article published on 23 January 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Evaluating DNA methylation and gene expression variability in the human term placenta.

scientific article published on 14 October 2010

Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors

scientific article

Expanding the neurodevelopmental phenotypes of individuals with de novo variants

scientific article published on 26 April 2019

Extensive epigenetic reprogramming in human somatic tissues between fetus and adult

scientific article

Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity

scientific article published on 19 February 2015

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Genome-wide detection of tandem DNA repeats that are expanded in autism

scientific article published on 27 July 2020

Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies

scientific article

Genomic imbalances in the placenta are associated with poor fetal growth

scientific article published on 07 January 2021

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

scientific article published on 18 December 2017

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

Human placental-specific epipolymorphism and its association with adverse pregnancy outcomes

scientific article

Hypermethylation of RASSF1A in human and rhesus placentas

scientific article

IFPA Meeting 2010 Workshop Report I: Immunology; ion transport; epigenetics; vascular reactivity; epitheliochorial placentation; proteomics.

scientific article published on 12 January 2011

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

scientific article published on July 2016

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

scientific article published on 16 May 2019

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

scientific article published on September 2015

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

scientific article published on 9 November 2017

PP065. dNK and dNK-CM mediated alterations of DNA methylation in extravillous cytotrophoblasts (EVTS).

scientific article published on 13 June 2012

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

scientific article published on 01 September 2019

Patterns of placental development evaluated by X chromosome inactivation profiling provide a basis to evaluate the origin of epigenetic variation.

scientific article

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

scientific article published on 10 January 2014

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

scientific article published on 05 December 2019

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

scientific article published on 18 December 2014

Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015.

scientific article published on 7 September 2016

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

scientific article published in 2022

Review: A high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcome

scientific article published on February 2011

Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees

scientific article published on 06 May 2020

Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS

scientific article published on 29 July 2019

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

scientific article published on 29 October 2013

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

scientific article published in February 2018

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders

article

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

scientific article published on 29 November 2014

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

Whole-genome sequencing of quartet families with autism spectrum disorder

scientific article published on 26 January 2015

Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia

scientific article published on 13 June 2013

or human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

scientific article published on 12 February 2019

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