List of works - Timothy W Yu

A curated gene list for reporting results of newborn genomic sequencing.

scientific article published on 12 January 2017

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

scientific article

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

scientific article published on September 2016

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

scientific article published on 06 June 2013

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Autism and fragile X syndrome

scientific article published on July 2014

BRAT1 mutations present with a spectrum of clinical severity

scientific article published on 9 June 2016

Biallelic mutations in human DCC cause developmental split-brain syndrome.

scientific article

C. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor.

scientific article

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus

scientific article

Dynamic regulation of axon guidance.

scientific article

Education research: A program perspective on learning how to teach

scientific article published in May 2008

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

scientific article

From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation

scientific article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

scientific article published on 25 May 2017

Infant mortality: the contribution of genetic disorders

scientific article published on 08 August 2019

Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase

scientific article published on July 2004

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

scientific article

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

scientific article published on 19 June 2017

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

article by Ozge Ceyhan-Birsoy et al published 3 January 2019 in American Journal of Human Genetics

Katanin p80 regulates human cortical development by limiting centriole and cilia number

scientific article published on December 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition

scientific article

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

scientific article published on 27 October 2016

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

scientific article published on 12 May 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

scientific article published on 28 October 2013

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

scientific article

Newborn Sequencing in Genomic Medicine and Public Health

scientific article

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Orthogonal NGS for High Throughput Clinical Diagnostics

scientific article published on 19 April 2016

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

scientific article published on 16 February 2016

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

scientific article published on 09 October 2019

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

scientific article published on 29 November 2019

Rare variant association test in family-based sequencing studies

scientific article published on 26 September 2016

Recessive gene disruptions in autism spectrum disorder

scientific article published on 17 June 2019

Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

article by Jaclyn B Murry et al published August 2018 in Cold Spring Harbor molecular case studies

Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function

scientific article published in November 2002

Somatic mutations in cerebral cortical malformations

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

The BabySeq project: implementing genomic sequencing in newborns

article by Ingrid A Holm et al published 9 July 2018 in BMC Pediatrics

The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM.

scientific article published in January 2003

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

scientific article published on 06 October 2016

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

scientific article published on 12 April 2019

Using whole-exome sequencing to identify inherited causes of autism

scientific article

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

scientific article

List of works by Timothy W Yu

A curated gene list for reporting results of newborn genomic sequencing.

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Autism and fragile X syndrome

BRAT1 mutations present with a spectrum of clinical severity

Biallelic mutations in human DCC cause developmental split-brain syndrome.

C. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus

Dynamic regulation of axon guidance.

Education research: A program perspective on learning how to teach

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

Infant mortality: the contribution of genetic disorders

Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Katanin p80 regulates human cortical development by limiting centriole and cilia number

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Newborn Sequencing in Genomic Medicine and Public Health

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Orthogonal NGS for High Throughput Clinical Diagnostics

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

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Rare variant association test in family-based sequencing studies

Recessive gene disruptions in autism spectrum disorder

Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function

Somatic mutations in cerebral cortical malformations

Synaptic, transcriptional and chromatin genes disrupted in autism

The BabySeq project: implementing genomic sequencing in newborns

The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Using whole-exome sequencing to identify inherited causes of autism

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism