List of works - Dalila Pinto

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

scientific article

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma

scientific article

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

scientific article (publication date: June 2011)

A genome-wide association study of anorexia nervosa

scientific article

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

scientific article published on 16 December 2013

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

scientific journal article

A genotype resource for postmortem brain samples from the Autism Tissue Program

scientific article

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

scientific article

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

scientific article published on 14 October 2011

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years

scientific article (publication date: May 2006)

A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

scientific article published in November 2007

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

scientific article published on 4 September 2015

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

scientific article

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

scientific article (publication date: 8 May 2011)

Contribution of SHANK3 mutations to autism spectrum disorder

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Copy-number variation in control population cohorts

scientific article published on October 2007

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.

scientific article published on 13 April 2017

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms

scientific article

Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci

article

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

scientific article published on 15 July 2010

Gene and miRNA expression profiles in autism spectrum disorders

scientific article published on 21 September 2010

Gene expression elucidates functional impact of polygenic risk for schizophrenia

scientific article published on 26 September 2016

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

scientific article

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genetics of photosensitivity (photoparoxysmal response): a review

scientific article published on January 2004

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

article

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

scientific article (publication date: 2012)

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

scientific article

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

scientific article published on 29 November 2010

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

scientific article published in October 2006

Identification of novel genetic causes of Rett syndrome-like phenotypes

scientific article published on 6 January 2016

Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data

scientific article

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

scientific journal article

Influenza virus infection causes global RNAPII termination defects

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

scientific article published on 20 December 2017

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.

scientific article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

scientific article published on 23 May 2015

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

scientific article

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

scientific article

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

scientific article

Origins and functional impact of copy number variation in the human genome

scientific article (publication date: April 2010)

Parallel changes in serum proteins and diffusion tensor imaging in methamphetamine-associated psychosis

scientific article

Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder

scientific article

Rare deletions at the neurexin 3 locus in autism spectrum disorder

scientific article

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

scientific article

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

scientific article

SHANK1 Deletions in Males with Autism Spectrum Disorder

scientific article

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

Structural variation of chromosomes in autism spectrum disorder

scientific article

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

scientific article

The PsychENCODE project

scientific article

Towards a comprehensive structural variation map of an individual human genome

scientific article

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

scientific article

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis

scientific article

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

scientific article published on 10 June 2020

List of works by Dalila Pinto

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

A genome-wide association study of anorexia nervosa

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

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

A genotype resource for postmortem brain samples from the Autism Tissue Program

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

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

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years

A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

Analysis of shared heritability in common disorders of the brain

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Contribution of SHANK3 mutations to autism spectrum disorder

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Copy-number variation in control population cohorts

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms

Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci

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

Gene and miRNA expression profiles in autism spectrum disorders

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

Genetics of photosensitivity (photoparoxysmal response): a review

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

Identification of novel genetic causes of Rett syndrome-like phenotypes

Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data

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

Influenza virus infection causes global RNAPII termination defects

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

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

Origins and functional impact of copy number variation in the human genome

Parallel changes in serum proteins and diffusion tensor imaging in methamphetamine-associated psychosis

Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder

Rare deletions at the neurexin 3 locus in autism spectrum disorder

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

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

SHANK1 Deletions in Males with Autism Spectrum Disorder

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Structural variation of chromosomes in autism spectrum disorder

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

The PsychENCODE project

Towards a comprehensive structural variation map of an individual human genome

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits