Author details

Full Name

Ryan K C Yuen

Affiliation

ORCID

Career Start Year

2006

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37419092	Approaches to studying the impact of 22q11.2 copy number variants.	Am J Hum Genet	2023
36380236	Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.	Mol Psychiatry	2023
37940981	Polygenic risk for triglyceride levels in the presence of a high impact rare variant.	BMC Med Genomics	2023
37645891	Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing.		2023
36517591	Recurrent repeat expansions in human cancer genomes.	Nature	2023
37154571	Gene copy number variation and pediatric mental health/neurodevelopment in a general population.	Hum Mol Genet	2023
34965938	Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.	Genome Research	2022
36309498	Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.	Nat Commun	2022
36368308	Genomic architecture of autism from comprehensive whole-genome sequence annotation.	Cell	2022
35495153	Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome.	Front Genet	2022
35546631	Genome-wide tandem repeat expansions contribute to schizophrenia risk.	Mol Psychiatry	2022
34622207	Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.	Brain Communications	2021
33474825	Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.	Am J Med Genet A	2021
33526774	Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.	Transl Psychiatry	2021
33413077	Genomic imbalances in the placenta are associated with poor fetal growth.	Molecular Medicine	2021
33407644	Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.	Orphanet Journal of Rare Diseases	2021
31540669	Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS.	Biol Psychiatry	2020
32372567	Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.	Am J Med Genet B Neuropsychiatr Genet	2020
32317787	A framework for an evidence-based gene list relevant to autism spectrum disorder.	Nat Rev Genet	2020
32345345	ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.	Genome Biol	2020
32216574	Student nurses' ethical views on responses to the severe acute respiratory syndrome outbreak.	Nursing Ethics	2020
32789700	Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies.	Current Neurology and Neuroscience Reports	2020
33110418	Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.	Front Genet	2020
31044088	Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variants.	NPJ Genom Med	2019
31602316	A large data resource of genomic copy number variation across neurodevelopmental disorders.	NPJ Genom Med	2019
29467497	Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.	Mol Psychiatry	2019
30759379	Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.	Stem Cell Reports	2019
30747104	<i>CNTN5</i><sup>-</sup><i><sup>/+</sup></i>or <i>EHMT2</i><sup>-</sup><i><sup>/+</sup></i>human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.	Elife	2019
30970188	Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>.	N Engl J Med	2019
31104771	Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.	Am J Hum Genet	2019
31327001	Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.	Brain	2019
29431110	The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.	CMAJ	2018
29890955	A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.	J Neurodev Disord	2018
30392976	Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.	Stem Cell Reports	2018
29304372	A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.	Am J Hum Genet	2018
28263302	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.	Nat Neurosci	2017
28649445	Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes.	NPJ Genom Med	2017
29264391	Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes.	Neurol Genet	2017
29152164	Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.	Mol Autism	2017
27166760	CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.	Mol Psychiatry	2017
28087693	<i>De Novo</i> Genome and Transcriptome Assembly of the Canadian Beaver (<i>Castor canadensis</i>).	G3 (Bethesda)	2017
27829159	DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.	Cell Rep	2016
28567303	Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.	NPJ Genom Med	2016
27363808	Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.	Sci Rep	2016
27525107	Genome-wide characteristics of <i>de novo</i> mutations in autism.	NPJ Genom Med	2016
27606929	Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015.	Psychiatr Genet	2016
26325558	Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.	JAMA	2015
25697377	Genome-wide DNA methylation identifies trophoblast invasion-related genes: Claudin-4 and Fucosyltransferase IV control mobility via altering matrix metalloproteinase activity.	Molecular Human Reproduction	2015
25621899	Whole-genome sequencing of quartet families with autism spectrum disorder.	Nat Med	2015
25525159	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.	Science	2015