Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
SJ Sanders, MT Murtha, AR Gupta, JD Murdoch… - Nature, 2012 - nature.com
Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …
Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …
disorders. However, genes known to be associated with developmental disorders account …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Large-scale discovery of novel genetic causes of developmental disorders
Nature, 2015 - nature.com
Despite three decades of successful, predominantly phenotype-driven discovery of the
genetic causes of monogenic disorders, up to half of children with severe developmental …
genetic causes of monogenic disorders, up to half of children with severe developmental …
Prevalence and architecture of de novo mutations in developmental disorders
Nature, 2017 - nature.com
The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
De novo mutations in regulatory elements in neurodevelopmental disorders
We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Autism spectrum disorder (ASD) involves substantial genetic contributions. These
contributions are profoundly heterogeneous but may converge on common pathways that …
contributions are profoundly heterogeneous but may converge on common pathways that …
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
component; however, for at least 70% of cases, the underlying genetic cause is unknown …