Lista de obras -

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

scientific journal article

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

artículo científico publicado en 2011

Apolipoprotein E and obstructive sleep apnea: evaluating whether a candidate gene explains a linkage peak

artículo científico publicado en 2006

Common variants in P2RY11 are associated with narcolepsy

artículo científico publicado en 2010

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Erratum: Common variants in P2RY11 are associated with narcolepsy

scholarly article published in Nature Genetics

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

scholarly article published in Nature Genetics

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic

scientific journal article

Head circumferences in twins with and without Autism Spectrum Disorders

artículo científico publicado en 2013

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

artículo científico publicado en 2013

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

scientific journal article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

artículo científico publicado en 2012

Narcolepsy is strongly associated with the T-cell receptor alpha locus

artículo científico publicado en 2009

Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire

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

Prenatal and perinatal risk factors in a twin study of autism spectrum disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2011

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Using fMRI connectivity to define a treatment-resistant form of post-traumatic stress disorder

artículo científico publicado en 2019

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome ⬇️

artículo científico publicado el 27 de noviembre de 2011

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome ⬇️

artículo científico publicado el 9 de febrero de 2011

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

artículo científico publicado en 2017

Lista de obras de

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

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

Apolipoprotein E and obstructive sleep apnea: evaluating whether a candidate gene explains a linkage peak

Common variants in P2RY11 are associated with narcolepsy

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Erratum: Common variants in P2RY11 are associated with narcolepsy

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

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

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

Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic

Head circumferences in twins with and without Autism Spectrum Disorders

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

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

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Narcolepsy is strongly associated with the T-cell receptor alpha locus

Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire

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

Prenatal and perinatal risk factors in a twin study of autism spectrum disorders

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

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

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

Using fMRI connectivity to define a treatment-resistant form of post-traumatic stress disorder

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome ⬇️

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome ⬇️

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder