Stephen Wayne Scherer


Ontology type: schema:Person     


Person Info

NAME

Stephen Wayne

SURNAME

Scherer

Publications in SciGraph latest 50 shown

  • 2021-11-21 Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells in HUMAN GENOMICS
  • 2021-11-18 Homozygous duplication identified by whole genome sequencing causes LRBA deficiency in NPJ GENOMIC MEDICINE
  • 2021-11-04 A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder in NPJ GENOMIC MEDICINE
  • 2021-05-17 Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands in MOLECULAR PSYCHIATRY
  • 2021-02-17 RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes in MOLECULAR PSYCHIATRY
  • 2021-02-16 Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh in NPJ GENOMIC MEDICINE
  • 2021-01-04 DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2020-11-09 Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome in NATURE MEDICINE
  • 2020-07-27 Genome-wide detection of tandem DNA repeats that are expanded in autism in NATURE
  • 2020-07-14 Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder in NATURE NEUROSCIENCE
  • 2020-05-12 Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells in MOLECULAR AUTISM
  • 2020-05-06 Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer in BMC MEDICAL GENETICS
  • 2020-05-04 Genome-wide association study of emotional empathy in children in SCIENTIFIC REPORTS
  • 2020-04-28 ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data in GENOME BIOLOGY
  • 2020-04-21 A framework for an evidence-based gene list relevant to autism spectrum disorder in NATURE REVIEWS GENETICS
  • 2019-12-09 Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels in NPJ GENOMIC MEDICINE
  • 2019-12-05 Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders in NATURE COMMUNICATIONS
  • 2019-11-12 Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations in BMC GENOMICS
  • 2019-10-07 A large data resource of genomic copy number variation across neurodevelopmental disorders in NPJ GENOMIC MEDICINE
  • 2019-08-06 Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome in NATURE COMMUNICATIONS
  • 2019-07-16 Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants in CLINICAL EPIGENETICS
  • 2019-07-15 Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa in NATURE GENETICS
  • 2019-07-09 New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome in BMC MEDICAL GENOMICS
  • 2019-04-26 Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants in NPJ GENOMIC MEDICINE
  • 2019-03-25 SHANK2 mutations associated with Autism Spectrum Disorder cause hyperconnectivity of human neurons in NATURE NEUROSCIENCE
  • 2019-02-07 Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2019-02-04 Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network in TRANSLATIONAL PSYCHIATRY
  • 2018-10-08 De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome in GENETICS IN MEDICINE
  • 2018-09-19 Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders in NPJ GENOMIC MEDICINE
  • 2018-07-05 Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-06-11 A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2018-03-20 Improving imputation in disease-relevant regions: lessons from cystic fibrosis in NPJ GENOMIC MEDICINE
  • 2018-02-21 Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling in MOLECULAR PSYCHIATRY
  • 2018-02-16 Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12-06 Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects in SCIENTIFIC REPORTS
  • 2017-11-30 Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia in GENOME MEDICINE
  • 2017-11-20 Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-11-09 Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly in MOLECULAR AUTISM
  • 2017-09-28 Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage in NPJ GENOMIC MEDICINE
  • 2017-09-14 Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders in SCIENTIFIC REPORTS
  • 2017-08-21 Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling in SCIENTIFIC REPORTS
  • 2017-07-17 Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder in NATURE NEUROSCIENCE
  • 2017-06-26 Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10 in MOLECULAR AUTISM
  • 2017-06-19 A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling in SCIENTIFIC REPORTS
  • 2017-05-26 Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study in NPJ GENOMIC MEDICINE
  • 2017-05-10 The clinical impact of copy number variants in inherited bone marrow failure syndromes in NPJ GENOMIC MEDICINE
  • 2017-05-04 A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder in GENETICS IN MEDICINE
  • 2017-05-03 Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes in NPJ GENOMIC MEDICINE
  • 2017-03-06 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder in NATURE NEUROSCIENCE
  • 2016-11-21 Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects in NATURE GENETICS
  • Affiliations

  • Hospital for Sick Children (current)
  • University of Arkansas for Medical Sciences
  • University of Helsinki
  • University of Alberta
  • Saudi Aramco Medical Services Organization
  • Universitätsklinikum des Saarlandes
  • British Columbia Children's Hospital
  • Cardiff University
  • Leiden University
  • National Institute of Diabetes and Digestive and Kidney Diseases
  • Bristol-Myers Squibb (United States)
  • Väestöliitto
  • National University of Singapore
  • McGill University
  • Centre for Addiction and Mental Health
  • Philipp University of Marburg
  • University of Queensland
  • Universidad del Desarrollo
  • Cornell University
  • Ghent University
  • Tel Aviv University
  • University of Montreal
  • National University of Sciences and Technology
  • Mohammed Bin Rashid University of Medicine and Health Sciences
  • Leibniz Institute on Aging – Fritz Lipmann Institute
  • Goethe University Frankfurt
  • Radboud University Nijmegen
  • Montreal Neurological Institute and Hospital
  • University Medical Center Utrecht
  • University of Wisconsin–Madison
  • University of Social Welfare and Rehabilitation Sciences
  • University of Trier
  • Canadian Institute for Advanced Research
  • University of Basel
  • SickKids Foundation
  • University of Zurich
  • German Cancer Research Center
  • University of Würzburg
  • University of Amsterdam
  • Autonomous University of Madrid
  • KU Leuven
  • University of British Columbia
  • LMU Klinikum
  • Maastricht University
  • University College London
  • Western General Hospital
  • Radboud University Nijmegen Medical Centre
  • Children's Hospital of Eastern Ontario
  • St. Michael's Hospital
  • Canadian National Institute Of Health
  • King Abdulaziz University
  • University of California, Los Angeles
  • Hôpital de la Timone
  • Western University
  • Mount Sinai Hospital
  • Aarhus University Hospital
  • Heidelberg University
  • Academic Medical Center
  • American Type Culture Collection
  • University of Toronto
  • King Faisal Specialist Hospital & Research Centre
  • The University of Texas Southwestern Medical Center
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

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