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 …

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 …

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

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

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 …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai… - Nature, 2020 - nature.com
… were significantly associated with developmental disorders, … developmental disorders.
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

HAF Stessman, BO Xiong, BP Coe, T Wang… - Nature …, 2017 - nature.com
… 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

Excess of rare, inherited truncating mutations in autism

N Krumm, TN Turner, C Baker, L Vives, K Mohajeri… - Nature …, 2015 - nature.com
… ) 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' (…

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 …

Excess mortality and causes of death in autism spectrum disorders: a follow up of the 1980s Utah/UCLA autism epidemiologic study

D Bilder, EL Botts, KR Smith, R Pimentel… - … developmental disorders, 2013 - Springer
… 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 …