List of works - James S. Sutcliffe

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

Strong association of de novo copy number mutations with autism

scientific article

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

scientific article published on 15 July 2010

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

scientific article

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

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

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

scientific article

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)

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

scientific article

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

scientific article (publication date: 3 August 2014)

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

scientific article published in January 1997

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

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

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

scientific article

Contribution of SHANK3 mutations to autism spectrum disorder

scientific article

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

scientific journal article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

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

scientific article

A genetic variant that disrupts MET transcription is associated with autism

scientific article

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

scientific article published in September 1997

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

scientific article (publication date: September 1994)

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

scientific article published in January 1993

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on January 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 October 2011

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

scientific article

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

scientific article

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

scientific article published in November 2004

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

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

scientific article

Enhanced activity of human serotonin transporter variants associated with autism

scientific article published on January 2009

The spectrum of mutations in UBE3A causing Angelman syndrome

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)

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

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

scientific article

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

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)

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

scientific article

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

scientific article

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

scientific article published on 17 May 2006

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

scientific article

Genetic analysis of biological pathway data through genomic randomization

scientific article

List of works by James S. Sutcliffe

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

Strong association of de novo copy number mutations with autism

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

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

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

Synaptic, transcriptional and chromatin genes disrupted in autism

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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

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

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

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

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

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

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

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

Contribution of SHANK3 mutations to autism spectrum disorder

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

Microduplications of 16p11.2 are associated with schizophrenia

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

A genetic variant that disrupts MET transcription is associated with autism

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

Enhanced activity of human serotonin transporter variants associated with autism

The spectrum of mutations in UBE3A causing Angelman syndrome

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

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

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

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

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

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

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

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

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

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

Genetic analysis of biological pathway data through genomic randomization