The following pages link to Timothy W Yu (Q37650543):
Displaying 50 items.
- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture (Q24301645) (← links)
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy (Q24309236) (← links)
- A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? (Q27326701) (← links)
- Synaptic, transcriptional and chromatin genes disrupted in autism (Q28250800) (← links)
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (Q28296286) (← links)
- METTL23, a transcriptional partner of GABPA, is essential for human cognition (Q30179391) (← links)
- Using whole-exome sequencing to identify inherited causes of autism (Q30418126) (← links)
- An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. (Q30581758) (← links)
- POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations (Q30590282) (← links)
- C. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor. (Q34095410) (← links)
- Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism (Q34236650) (← links)
- Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus (Q34424431) (← links)
- Dynamic regulation of axon guidance. (Q34425373) (← links)
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (Q34495555) (← links)
- Newborn Sequencing in Genomic Medicine and Public Health (Q34549504) (← links)
- Somatic mutations in cerebral cortical malformations (Q34763259) (← links)
- Katanin p80 regulates human cortical development by limiting centriole and cilia number (Q35797268) (← links)
- From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation (Q36312046) (← links)
- Orthogonal NGS for High Throughput Clinical Diagnostics (Q36811810) (← links)
- Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait (Q37170442) (← links)
- A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia (Q37212874) (← links)
- Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition (Q37515507) (← links)
- The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (Q37607062) (← links)
- Autism and fragile X syndrome (Q38246338) (← links)
- Biallelic mutations in human DCC cause developmental split-brain syndrome. (Q38934779) (← links)
- Rare variant association test in family-based sequencing studies (Q39345468) (← links)
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome (Q41199584) (← links)
- Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate (Q41921410) (← links)
- Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. (Q42071075) (← links)
- Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase (Q42630664) (← links)
- Education research: A program perspective on learning how to teach (Q44575797) (← links)
- The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM. (Q46349589) (← links)
- Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function (Q46765318) (← links)
- A curated gene list for reporting results of newborn genomic sequencing. (Q47162944) (← links)
- DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. (Q47606475) (← links)
- Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. (Q50307016) (← links)
- BRAT1 mutations present with a spectrum of clinical severity. (Q52131905) (← links)
- 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. (Q52884385) (← links)
- Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. (Q53266768) (← links)
- The BabySeq project: implementing genomic sequencing in newborns (Q57306568) (← links)
- Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report (Q57306573) (← links)
- Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (Q60641389) (← links)
- Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project (Q63614921) (← links)
- Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease (Q90612034) (← links)
- Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield (Q91526826) (← links)
- De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (Q92055521) (← links)
- Infant mortality: the contribution of genetic disorders (Q92509662) (← links)
- Recessive gene disruptions in autism spectrum disorder (Q92826892) (← links)
- Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes (Q93065839) (← links)
- Wikidata:WikiCite/Wikidata lists/Items about RNA-Seq (← links | edit)