Genetic studies in intellectual disability and related disorders

LELM Vissers, C Gilissen, JA Veltman - Nature Reviews Genetics, 2016 - nature.com
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

Fox transcription factors: from development to disease

ML Golson, KH Kaestner - Development, 2016 - journals.biologists.com
Forkhead box (Fox) transcription factors are evolutionarily conserved in organisms ranging
from yeast to humans. They regulate diverse biological processes both during development …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

HAF Stessman, BO Xiong, BP Coe, T Wang… - Nature …, 2017 - nature.com
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia

Molecular autism, 2017 - Springer
Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

BJ O'Roak, L Vives, W Fu, JD Egertson, IB Stanaway… - Science, 2012 - science.org
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits

JM Lane, J Liang, I Vlasac, SG Anderson… - Nature …, 2017 - nature.com
Chronic sleep disturbances, associated with cardiometabolic diseases, psychiatric disorders
and all-cause mortality,, affect 25–30% of adults worldwide. Although environmental factors …

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz… - Nature …, 2011 - nature.com
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Genomics, intellectual disability, and autism

HC Mefford, ML Batshaw… - New England Journal of …, 2012 - Mass Medical Soc
Genomics, Intellectual Disability, and Autism | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …