Lista de obras - Ryan Yuen - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Are we ready for DNA methylation-based prenatal testing?

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Expanding the neurodevelopmental phenotypes of individuals with de novo variants

artículo científico publicado en 2019

Extensive epigenetic reprogramming in human somatic tissues between fetus and adult

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Genome-wide characteristics of de novo mutations in autism

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Genomic imbalances in the placenta are associated with poor fetal growth

artículo científico publicado en 2021

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

artículo científico publicado en 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

artículo científico publicado en 2009

Hypermethylation of RASSF1A in human and rhesus placentas

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico

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.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2022

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Whole-genome sequencing of quartet families with autism spectrum disorder

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Lista de obras de Ryan Yuen

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

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

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

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

Are we ready for DNA methylation-based prenatal testing?

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

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

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

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.

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

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

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

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

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

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

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

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

Expanding the neurodevelopmental phenotypes of individuals with de novo variants

Extensive epigenetic reprogramming in human somatic tissues between fetus and adult

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

Genome-wide characteristics of de novo mutations in autism

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

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

Genomic imbalances in the placenta are associated with poor fetal growth

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

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

Hypermethylation of RASSF1A in human and rhesus placentas

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Whole-genome sequencing of quartet families with autism spectrum disorder

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

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