List of works - Bridget A. Fernandez

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

scientific article

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

scientific journal article

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

scientific article published on 07 October 2019

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

scientific article published on 14 October 2011

Contribution of SHANK3 mutations to autism spectrum disorder

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

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

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

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

scientific article published on 15 July 2010

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

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

scientific journal article

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

scientific article published on September 2015

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

scientific article

Rare deletions at the neurexin 3 locus in autism spectrum disorder

scientific article

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

scientific article published on 7 February 2013

SHANK1 Deletions in Males with Autism Spectrum Disorder

scientific article

Structural variation of chromosomes in autism spectrum disorder

scientific article

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

scientific article published on 29 November 2014

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 Bridget A. Fernandez

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

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

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

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

Contribution of SHANK3 mutations to autism spectrum disorder

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

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

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

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

Genome-wide characteristics of de novo mutations in autism

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

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

Rare deletions at the neurexin 3 locus in autism spectrum disorder

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

SHANK1 Deletions in Males with Autism Spectrum Disorder

Structural variation of chromosomes in autism spectrum disorder

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

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

Whole-genome sequencing of quartet families with autism spectrum disorder