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 …
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 …
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 …
An atlas of gene regulatory elements in adult mouse cerebrum
The mammalian cerebrum performs high-level sensory perception, motor control and
cognitive functions through highly specialized cortical and subcortical structures. Recent …
cognitive functions through highly specialized cortical and subcortical structures. Recent …
[HTML][HTML] Conserved and divergent gene regulatory programs of the mammalian neocortex
Divergence of cis-regulatory elements drives species-specific traits, but how this manifests in
the evolution of the neocortex at the molecular and cellular level remains unclear. Here we …
the evolution of the neocortex at the molecular and cellular level remains unclear. Here we …
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 …
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements
Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to
amplification-related artifacts. To reduce this artifact burden, an improved amplification …
amplification-related artifacts. To reduce this artifact burden, an improved amplification …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Recent research has uncovered an important role for de novo variation in
neurodevelopmental disorders. Using aggregated data from 9,246 families with autism …
neurodevelopmental disorders. Using aggregated data from 9,246 families with autism …