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Search Results to Stephen Scherer

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Scherer, Stephen

Item TypeName
Concept Autism Spectrum Disorder
Academic Article Contribution of SHANK3 mutations to autism spectrum disorder.
Academic Article Structural variation of chromosomes in autism spectrum disorder.
Academic Article Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
Academic Article Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Academic Article Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Academic Article Functional impact of global rare copy number variation in autism spectrum disorders.
Academic Article Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Academic Article Gene and miRNA expression profiles in autism spectrum disorders.
Academic Article Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Academic Article The NeuroDevNet Autism Spectrum Disorders Demonstration Project.
Academic Article Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Academic Article Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Academic Article A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Academic Article Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Academic Article Detection and characterization of copy number variation in autism spectrum disorder.
Academic Article Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Academic Article Genetic architecture in autism spectrum disorder.
Academic Article SHANK1 Deletions in Males with Autism Spectrum Disorder.
Academic Article Individual common variants exert weak effects on the risk for autism spectrum disorders.
Academic Article De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
Academic Article Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Academic Article Autism spectrum disorder in the genetics clinic: a review.
Academic Article Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Academic Article Identification of candidate intergenic risk loci in autism spectrum disorder.
Academic Article Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Academic Article Autism spectrum disorder: advances in evidence-based practice.
Academic Article Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Academic Article Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.
Academic Article Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Academic Article Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Academic Article Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants.
Academic Article Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Academic Article Copy number variation in Han Chinese individuals with autism spectrum disorder.
Academic Article Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Academic Article The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.
Academic Article Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Academic Article Whole-genome sequencing of quartet families with autism spectrum disorder.
Academic Article Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.
Academic Article Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Academic Article Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Academic Article Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.
Academic Article The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Academic Article Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Academic Article CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Academic Article Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Academic Article Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Academic Article Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.
Academic Article Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Academic Article Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Academic Article Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Academic Article Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.
Academic Article Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder.
Academic Article Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Academic Article Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.
Academic Article Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Academic Article Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.
Academic Article Progress in the genetics of autism spectrum disorder.
Academic Article Paternally inherited cis-regulatory structural variants are associated with autism.
Academic Article A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Academic Article A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Academic Article Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.
Academic Article OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Academic Article A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.
Academic Article Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders.
Academic Article Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
Academic Article SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.
Academic Article Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network.
Academic Article Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article Association between distress and knowledge among parents of autistic children.
Academic Article Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
Academic Article Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.
Academic Article A framework for an evidence-based gene list relevant to autism spectrum disorder.
Academic Article Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Academic Article Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

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  • Autism Spectrum Disorder