Dalila Pinto
A5088479227- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Eating Disorders and Behaviors
- Single-cell and spatial transcriptomics
- Congenital heart defects research
- Bioinformatics and Genomic Networks
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- RNA regulation and disease
- Genomics and Chromatin Dynamics
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Obesity, Physical Activity, Diet
- Genetic Syndromes and Imprinting
- Epilepsy research and treatment
- Suicide and Self-Harm Studies
- Glycogen Storage Diseases and Myoclonus
- MicroRNA in disease regulation
- Biochemical Analysis and Sensing Techniques
- Gene expression and cancer classification
- Cancer-related gene regulation
Icahn School of Medicine at Mount Sinai
2015-2024
Child Health and Development Institute
2013-2024
Allen Institute for Brain Science
2014-2023
University of Utah
2023
Virginia Commonwealth University
2023
Huntsman (United States)
2023
Mount Sinai Medical Center
2022
Center for Information Technology
2020
Institut thématique Génétique, génomique et bioinformatique
2019
Massachusetts General Hospital
2019
Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments transcriptomic organization diseased brains are limited. In this work, we integrated genotypes RNA sequencing brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, bipolar disorder, as well controls. More than 25% the transcriptome exhibits differential splicing or expression,...
Genes overlap across psychiatric disease Many genome-wide studies have examined genes associated with a range of neuropsychiatric disorders. However, the degree to which genetic underpinnings these diseases differ or is unknown. Gandal et al. performed meta-analyses transcriptomic covering five major disorders and compared cases controls identify coexpressed gene modules. From this, they found that some share global expression patterns. This in polygenic traits may allow for better diagnosis...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed excess genic deletions duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) increase subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD intellectual disability (odds ratio 12.62, 2.7 10(-15), ∼3% subjects). Pathogenic CNVs, often showing variable expressivity,...
Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource adult brain across 1866 individuals. The contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles many cell types; quantitative-trait loci (QTLs); further QTLs associated with chromatin, splicing, cell-type...
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes us uniquely human. development the a highly complex process, this process reliant on precise regulation molecular cellular events grounded in spatiotemporal transcriptome. Disruption can lead to neuropsychiatric disorders. RATIONALE regulatory, epigenomic, transcriptomic features human have not been comprehensively compiled across time, regions, or cell types. Understanding etiology disorders requires...
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known risk has been traced to rare variants, principally copy number variants (CNVs). To identify common variation, Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes association with ASD. In one four primary analyses, signal marker rs4141463, located within MACROD2, crossed genome-wide...
High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are Andean Altiplano and Tibetan Plateau. Populations living in these exhibit unique circulatory, respiratory, hematological adaptations life at high altitude. Although responses been well characterized physiologically, their underlying genetic basis remains unknown. We performed a...
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental with complex inheritance pattern. While many rare variants in synaptic proteins have been identified patients ASD, little is known about their effects at the synapse and interactions other genetic variations. Here, following discovery two de novo SHANK2 deletions by Genome Project, we novel 421 kb deletion patient autism. We then sequenced 455 ASD 431 controls integrated these results those reported Berkel et al....
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), contribution common to risk developing ASD less clear.To produce a more comprehensive picture, we report Stage 2 Autism Genome Project genome-wide association study, adding 1301 families and bringing total 2705 analysed (Stages 1 2).In addition evaluating individual single nucleotide polymorphisms (SNPs), also sought evidence variants, en masse, might affect...
Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation larger structural less comprehensive. It is still unclear to what extent a typical genome differs from reference assembly, analysis sequenced date shown varying results for copy number variation (CNV) inversions. We combined computational re-analysis existing...
Genes implicated in neuropsychiatric disorders are active human fetal brain, yet difficult to study a longitudinal fashion. We demonstrate that organoids from pluripotent cells model cerebral cortical development on the molecular level before 16 weeks postconception. A multiomics analysis revealed differentially genes and enhancers, with greatest changes occurring at transition stem progenitors. Networks of converging gene enhancer modules were assembled into six four global patterns...
<h3>Background</h3> The aim of this work was to identify new genetic causes Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. <h3>Methods results</h3> We studied cohort 19 Portuguese patients (16 girls, 3 boys) with clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering the single nucleotide variants indels preference for de novo, homozygous/compound heterozygous, or maternally inherited...
Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are major source disability social economic burden. Both have substantial genetic etiology, partially shared distinct from that related psychiatric disorders.