Lista de obras - Dalila Pinto - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

A genome-wide association study of anorexia nervosa

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

Copy-number variation in control population cohorts

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Gene and miRNA expression profiles in autism spectrum disorders

artículo científico publicado en 2010

Gene expression elucidates functional impact of polygenic risk for schizophrenia

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Identification of novel genetic causes of Rett syndrome-like phenotypes

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder

artículo científico publicado en 2015

Rare deletions at the neurexin 3 locus in autism spectrum disorder

artículo científico publicado en 2012

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

artículo científico publicado en 2014

SHANK1 Deletions in Males with Autism Spectrum Disorder

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Structural variation of chromosomes in autism spectrum disorder

artículo científico publicado en 2008

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

artículo científico publicado en 2014

The PsychENCODE project

artículo científico publicado en 2015

Towards a comprehensive structural variation map of an individual human genome

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

Lista de obras de 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