List of works - James S. Sutcliffe

A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data

article

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors

scientific article published on 27 January 2017

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

scientific article

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

A genetic variant that disrupts MET transcription is associated with autism

scientific article

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

scientific article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis

scientific article published on 6 January 2015

A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism

scientific article published in November 2004

A multisite study of the clinical diagnosis of different autism spectrum disorders

scientific article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"?

scientific article published on 3 October 2011

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

scientific article published on 06 June 2013

Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms

scientific article published on 01 January 1996

Affiliative behaviors and beyond: it's the phenotype, stupid

scientific article

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors

scientific article

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility

article

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

scientific article

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

scientific article published in December 2004

Angelman syndrome in an inbred family

scientific article published in March 1996

Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome.

scientific article published in January 2000

Association of MET with social and communication phenotypes in individuals with autism spectrum disorder.

scientific article published in March 2010

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder

scientific article

Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues

scientific article

Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

scientific article

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

scientific article

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene

scientific article (publication date: March 2004)

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

scientific article

Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptors

scientific article

Common genetic variants on 5p14.1 associate with autism spectrum disorders

scientific article

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes

scientific article

Contribution of SHANK3 mutations to autism spectrum disorder

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

scientific article published in January 1997

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

scientific article (publication date: September 1994)

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism

scientific article

Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions

scientific article (publication date: March 2009)

Enhanced activity of human serotonin transporter variants associated with autism

scientific article published on January 2009

Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes

scientific article

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13

scientific article (publication date: July 2003)

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

scientific article published in June 2009

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Genetic analysis of biological pathway data through genomic randomization

scientific article

Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice

scientific article

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder

scientific article

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

scientific article

Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism

scientific article published in February 2003

Genetics. Insights into the pathogenesis of autism

scientific article

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

scientific article

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

scientific article

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

scientific article

Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase

scientific article

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

scientific article

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

scientific article published in September 1997

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

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

scientific article

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

scientific article

Integrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in Mice

scientific article

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

scientific article

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

scientific article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

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

Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism

scientific article published on 04 April 2007

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

scientific article (publication date: June 2011)

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

article

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

scientific article

PCR amplification and analysis of yeast artificial chromosomes

scientific article published on August 1, 1992

Parent-of-origin effects of the serotonin transporter gene associated with autism

scientific article

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

scientific article

Patterns and rates of exonic de novo mutations in autism spectrum disorders

scientific article

Pro32Pro33 mutations in the integrin β3 PSI domain result in αIIbβ3 priming and enhanced adhesion: reversal of the hypercoagulability phenotype by the Src inhibitor SKI-606.

scientific article

Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors

scientific article

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

scientific article published on 16 August 2013

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.

scientific article

Strong association of de novo copy number mutations with autism

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

scientific article

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures

scientific article

The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.

scientific article published on 16 October 2017

The spectrum of mutations in UBE3A causing Angelman syndrome

scientific article

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome

scientific article published in January 1993

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

scientific article

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

scientific article published on 29 November 2014

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

scientific article published on 01 December 1996

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility

scientific article published on 17 May 2006

Zn(2+) reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder

scientific article

‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation

scientific article published on 01 January 2003

List of works by James S. Sutcliffe

A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

A framework for the interpretation of de novo mutation in human disease

A genetic variant that disrupts MET transcription is associated with autism

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

A genome-wide scan for common alleles affecting risk for autism

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis

A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism

A multisite study of the clinical diagnosis of different autism spectrum disorders

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"?

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

Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms

Affiliative behaviors and beyond: it's the phenotype, stupid

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

Angelman syndrome in an inbred family

Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome.

Association of MET with social and communication phenotypes in individuals with autism spectrum disorder.

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder

Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues

Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptors

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes

Contribution of SHANK3 mutations to autism spectrum disorder

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism

Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions

Enhanced activity of human serotonin transporter variants associated with autism

Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

Functional impact of global rare copy number variation in autism spectrum disorders

Genetic analysis of biological pathway data through genomic randomization

Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder

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

Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism

Genetics. Insights into the pathogenesis of autism

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

Individual common variants exert weak effects on the risk for autism spectrum disorders

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

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

Integrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in Mice

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Microduplications of 16p11.2 are associated with schizophrenia

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

Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

PCR amplification and analysis of yeast artificial chromosomes

Parent-of-origin effects of the serotonin transporter gene associated with autism

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Pro32Pro33 mutations in the integrin β3 PSI domain result in αIIbβ3 priming and enhanced adhesion: reversal of the hypercoagulability phenotype by the Src inhibitor SKI-606.

Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.

Strong association of de novo copy number mutations with autism