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 …
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 …
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 …
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …
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 …
High-throughput discovery of novel developmental phenotypes
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting
from knockouts of these genes in mice have provided tremendous insight into gene function …
from knockouts of these genes in mice have provided tremendous insight into gene function …
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 …
Searching for genetic determinants in the new millennium
NJ Risch - Nature, 2000 - nature.com
Human genetics is now at a critical juncture. The molecular methods used successfully to
identify the genes underlying rare mendelian syndromes are failing to find the numerous …
identify the genes underlying rare mendelian syndromes are failing to find the numerous …
De novo mutations in human genetic disease
JA Veltman, HG Brunner - Nature Reviews Genetics, 2012 - nature.com
New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …
the disease burden can only now be determined using family-based whole-genome or …