Lista de obras -

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

A genetic variant that disrupts MET transcription is associated with autism

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 1996

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

Angelman syndrome in an inbred family

artículo científico publicado en 1996

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

artículo científico publicado en 2000

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 1992

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Contribution of SHANK3 mutations to autism spectrum disorder

artículo científico publicado en 2007

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

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

artículo científico publicado en 1997

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

artículo científico publicado en 1994

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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

Enhanced activity of human serotonin transporter variants associated with autism

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Genetic analysis of biological pathway data through genomic randomization

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

Genetics. Insights into the pathogenesis of autism

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 1993

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

artículo científico publicado en 2005

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

artículo científico publicado en 1991

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

artículo científico publicado en 2001

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

artículo científico publicado en 2012

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

Microduplications of 16p11.2 are associated with schizophrenia

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2011

PCR amplification and analysis of yeast artificial chromosomes

artículo científico publicado el 1 de agosto de 1992

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Strong association of de novo copy number mutations with autism

artículo científico publicado en 2007

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

The spectrum of mutations in UBE3A causing Angelman syndrome

artículo científico publicado en 1999

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

artículo científico publicado en 1993

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 1996

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

Lista de obras de

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