about
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureIdentification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyA genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Synaptic, transcriptional and chromatin genes disrupted in autismGenetic relationship between five psychiatric disorders estimated from genome-wide SNPsMETTL23, a transcriptional partner of GABPA, is essential for human cognition.Using whole-exome sequencing to identify inherited causes of autism.An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsC. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor.Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus.Dynamic regulation of axon guidance.Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Newborn Sequencing in Genomic Medicine and Public Health.Somatic mutations in cerebral cortical malformations.Katanin p80 regulates human cortical development by limiting centriole and cilia number.From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation.Orthogonal NGS for High Throughput Clinical Diagnostics.Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous traitA novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesAutism and fragile X syndrome.Biallelic mutations in human DCC cause developmental split-brain syndrome.Rare variant association test in family-based sequencing studies.Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase.Education research: A program perspective on learning how to teach.The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM.Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function.A curated gene list for reporting results of newborn genomic sequencing.DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.BRAT1 mutations present with a spectrum of clinical severity.Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.The BabySeq project: implementing genomic sequencing in newborns
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Timothy W Yu
@ast
Timothy W Yu
@en
Timothy W Yu
@es
Timothy W Yu
@nl
Timothy W Yu
@sl
type
label
Timothy W Yu
@ast
Timothy W Yu
@en
Timothy W Yu
@es
Timothy W Yu
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Timothy W Yu
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Timothy Yu
@en
prefLabel
Timothy W Yu
@ast
Timothy W Yu
@en
Timothy W Yu
@es
Timothy W Yu
@nl
Timothy W Yu
@sl
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0000-0003-2988-7701