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

…, H Hakonarson, EA Heron, M Hill, R Holt, JL Howe… - 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 …

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

…, TR Magalhaes, JK Lowe, JL Howe… - 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 …

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

…, EA Heron, M Hill, R Holt, JL Howe… - 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). …

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

S Berkel, CR Marshall, B Weiss, J Howe, R Roeth… - Nature …, 2010 - nature.com
Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic
scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental …

Whole-genome sequencing of quartet families with autism spectrum disorder

…, MJ Gazzellone, L D'abate, E Deneault, JL Howe… - 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 …

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

…, C Depienne, K Mouzat, D Pinto, J Howe… - PLoS …, 2014 - journals.plos.org
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic
synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and …

[PDF][PDF] Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

…, MT Carter, C Chrysler, IE Drmic, JL Howe… - The American Journal of …, 2013 - cell.com
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

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

…, M Gazzellone, AR Carson, JL Howe… - 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 …

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

…, SJ Guter, EA Heron, R Holt, JL Howe… - 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

…, E Anagnostou, Z Wang, J Wei, JL Howe… - 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 …