about
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genesPartial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresAllelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviorsFunctional impact of global rare copy number variation in autism spectrum disordersCommon genetic variants on 5p14.1 associate with autism spectrum disordersAutism genome-wide copy number variation reveals ubiquitin and neuronal genesStrong association of de novo copy number mutations with autismMicroduplications of 16p11.2 are associated with schizophreniaContribution of SHANK3 mutations to autism spectrum disorderRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesA genetic variant that disrupts MET transcription is associated with autismThe GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizuresGenome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlatesIntegrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in MiceMapping autism risk loci using genetic linkage and chromosomal rearrangements.A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditionsDeletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionAutosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 geneSynaptic, transcriptional and chromatin genes disrupted in autismPatterns and rates of exonic de novo mutations in autism spectrum disordersLoci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait lociIdentification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeThe spectrum of mutations in UBE3A causing Angelman syndromeGenetic relationship between five psychiatric disorders estimated from genome-wide SNPsRare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismA framework for the interpretation of de novo mutation in human diseaseAutism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior.A multisite study of the clinical diagnosis of different autism spectrum disordersGenetic background modulates phenotypes of serotonin transporter Ala56 knock-in miceGenetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.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.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Genetic analysis of biological pathway data through genomic randomization.Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase.Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome.Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
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description
hulumtues
@sq
molecular physiologist
@en
wetenschapper
@nl
հետազոտող
@hy
name
James S Sutcliffe
@nl
James S Sutcliffe
@sl
James S. Sutcliffe
@en
type
label
James S Sutcliffe
@nl
James S Sutcliffe
@sl
James S. Sutcliffe
@en
altLabel
JS Sutcliffe
@en
Sutcliffe, JS
@en
prefLabel
James S Sutcliffe
@nl
James S Sutcliffe
@sl
James S. Sutcliffe
@en
P108
P1053
C-1348-2012
P106
P108
P1153
7101638712
P21
P2798
P31
P3829
P496
0000-0001-5200-6007