User profiles for Bridget A. Fernandez

Bridget Fernandez

Professor of Clinical Pediatrics, Keck School of Medicine, University of Southern California
Verified email at chla.usc.edu
Cited by 24543

Synaptic, transcriptional and chromatin genes disrupted in autism

…, SR Curran, G Dawson, E Duketis, BA Fernandez… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

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

…, E Duketis, F Duque, A Estes, P Farrar, BA Fernandez… - Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus

…, T Esko, BA Fernandez, F Fernández-Aranda… - Nature, 2011 - nature.com
Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

[PDF][PDF] Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

…, J Green, A Green, C Gillberg, BA Fernandez… - The American Journal of …, 2014 - cell.com
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 an excess of genic …

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

…, BJ Frey, JT Robinson, LJ Strug, BA Fernandez… - Nature …, 2017 - nature.com
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD)
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …

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

…, A Estes, P Farrar, BA Fernandez… - Human molecular …, 2010 - academic.oup.com
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants (CNVs). …

Whole-genome sequencing of quartet families with autism spectrum disorder

…, PN Ray, R Weksberg, MT Carter, BA Fernandez… - Nature medicine, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds
of susceptibility loci. Previous microarray and exome-sequencing studies have examined …

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

…, A Estes, P Farrar, BA Fernandez… - Human molecular …, 2012 - academic.oup.com
While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …

Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder

…, DJ Stavropoulos, SW Scherer, BA Fernandez - Jama, 2015 - jamanetwork.com
Importance The use of genome-wide tests to provide molecular diagnosis for individuals with
autism spectrum disorder (ASD) requires more study. Objective To perform chromosomal …

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

…, S Schreiber, L Zwaigenbaum, BA Fernandez… - Science translational …, 2011 - science.org
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition
characterized by developmentally atypical and impairing inattention, hyperactivity, and …