D. Pinto

Publications124
h-index48
Citations19,603
Highly Influential Citations935
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Origins and functional impact of copy number variation in the human genome
TLDR
It is concluded that the heritability void left by genome-wide association studies will not be accounted for by common CNVs, and 30 loci with CNVs that are candidates for influencing disease susceptibility are identified.
Structural variation of chromosomes in autism spectrum disorder.
Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia
TLDR
It is shown that schizophrenia is polygenic and the utility of this resource of gene expression and its genetic regulation for mechanistic interpretations of genetic liability for brain diseases is highlighted.
Contribution of SHANK3 mutations to autism spectrum disorder.
TLDR
The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
TLDR
Using microarrays, de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation are identified, further link common genes between ASD and intellectual disability.
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data
TLDR
The results indicate that several key HIF-regulatory and targeted genes are responsible for adaptation to high altitude in Andeans and Tibetans, and several different chromosomal regions are implicated in the putative response to selection.
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
TLDR
This work integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder, schizophrenia, and bipolar disorder, as well as controls to identify causal drivers and define a mechanistic basis for the composite activity of genetic risk variants.
A genome-wide scan for common alleles affecting risk for autism
TLDR
In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
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