List of works - Giovanna Pellecchia

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

scientific article published in January 2018

A high-resolution copy-number variation resource for clinical and population genetics

scientific article published on 11 December 2014

A large data resource of genomic copy number variation across neurodevelopmental disorders

scientific article published on 07 October 2019

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

scientific article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Genome-wide detection of tandem DNA repeats that are expanded in autism

scientific article published on 27 July 2020

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

scientific article

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

scientific article published on July 2016

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

scientific article published on 28 July 2017

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

scientific article published in 2022

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

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

scientific article published on 6 March 2017

Whole-genome sequencing of quartet families with autism spectrum disorder

scientific article published on 26 January 2015

List of works by Giovanna Pellecchia

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

A high-resolution copy-number variation resource for clinical and population genetics

A large data resource of genomic copy number variation across neurodevelopmental disorders

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

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Genome-wide characteristics of de novo mutations in autism

Genome-wide detection of tandem DNA repeats that are expanded in autism

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

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

Whole-genome sequencing of quartet families with autism spectrum disorder