Prevalence and architecture of de novo mutations in developmental disorders
Nature, 2017 - nature.com
… We found that USP9X and ZC4H2 had a genome-wide significant excess of DNMs in female
probands, indicating these genes have X-linked dominant modes of inheritance in addition …
probands, indicating these genes have X-linked dominant modes of inheritance in addition …
Large-scale discovery of novel genetic causes of developmental disorders
Nature, 2015 - nature.com
… We observed no significant excess of any functional class of … As many of our candidate
developmental disorder genes … function phenotypes in zebrafish may exceed that observed in our …
developmental disorder genes … function phenotypes in zebrafish may exceed that observed in our …
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
DA King, TW Fitzgerald, R Miller, N Canham… - Genome …, 2014 - genome.cshlp.org
… test to identify chromosomes with a significant burden of uniparentally … Developmental
Disorders project, a trio-based rare disease study, and detected six validated events, a significant …
Disorders project, a trio-based rare disease study, and detected six validated events, a significant …
Prenatal, perinatal, and neonatal factors in autism, pervasive developmental disorder-not otherwise specified, and the general population
N Juul-Dam, J Townsend, E Courchesne - Pediatrics, 2001 - publications.aap.org
… The PDD-NOS group showed results similar to those of the autism group, with significantly
… A prolonged labor may be caused by fetal malposition, fetopelvic disproportion, excess …
… A prolonged labor may be caused by fetal malposition, fetopelvic disproportion, excess …
Epidemiological surveys of autism and other pervasive developmental disorders: an update
E Fombonne - Journal of autism and developmental disorders, 2003 - Springer
… surveys of autism, the attributable proportion of cases of autism would not exceed the 10%
figure for any medical disorder (excluding epilepsy and sensory impairments). Although this …
figure for any medical disorder (excluding epilepsy and sensory impairments). Although this …
Evidence for 28 genetic disorders discovered by combining healthcare and research data
… were significantly associated with developmental disorders, … developmental disorders.
Although we detected more genes associated with developmental disorders, much of the excess …
Although we detected more genes associated with developmental disorders, much of the excess …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
… 24 genes with a significant excess of de novo missense … significance (for example, SCN2A,
STXBP1, CHD2, and CASK), whereas others were significant only on the basis of an excess …
STXBP1, CHD2, and CASK), whereas others were significant only on the basis of an excess …
Excess of rare, inherited truncating mutations in autism
… ) together, we observed no statistically significant difference in the overall burden within …
For the 1,575 probands with a diagnosis of 'autism' or 'pervasive developmental disorder' (…
For the 1,575 probands with a diagnosis of 'autism' or 'pervasive developmental disorder' (…
Autism and pervasive developmental disorders
FR Volkmar, C Lord, A Bailey… - Journal of child …, 2004 - Wiley Online Library
… Psychological research has helped to develop new developmental models for the disorder
and there have also been significant advances in the molecular genetics of autism and …
and there have also been significant advances in the molecular genetics of autism and …
Excess mortality and causes of death in autism spectrum disorders: a follow up of the 1980s Utah/UCLA autism epidemiologic study
… After adjusting for cofounders, these excess mortality risks remain significant and are of
similar magnitude. To demonstrate how excess mortality varied by gender, we reanalyzed the …
similar magnitude. To demonstrate how excess mortality varied by gender, we reanalyzed the …
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