[HTML][HTML] Genomic patterns of de novo mutation in simplex autism

TN Turner, BP Coe, DE Dickel, K Hoekzema… - Cell, 2017 - cell.com
… In order to assess the contribution of variants in the noncoding, putative regulatory portions
of the genome, we selected 476 autism families from the Simons Simplex Collection (SSC) …

[HTML][HTML] Transmission disequilibrium of small CNVs in simplex autism

N Krumm, BJ O'Roak, E Karakoc, K Mohajeri… - The American Journal of …, 2013 - cell.com
autism spectrum disorder (ASD) from the Simons Simplex … all independently contributed
to the risk of autism (p < 0.05). … a role in the etiology of simplex autism. Importantly, the small …

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

P Chaste, L Klei, SJ Sanders, V Hus, MT Murtha… - Biological …, 2015 - Elsevier
… To do so, we use the genome-wide genotypic data from the Simons Simplex Collection (SSC)
(32), the largest cohort of autism simplex families amassed to date. Phenotypic subgroups …

[HTML][HTML] The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

JD Buxbaum, N Bolshakova, JM Brownfeld, RJL Anney… - Molecular autism, 2014 - Springer
… To begin to redress this, members of the Autism Genome Project Consortium (AGP) made
a proposal to Autism Speaks to collect a large number of well-phenotyped trios and to make …

[HTML][HTML] Phenotypic subtyping and re-analyses of existing transcriptomic data from autistic probands in simplex families reveal differentially expressed and ASD trait …

VW Hu, C Bi - Frontiers in Neurology, 2020 - frontiersin.org
… , and autistic traits. In this study, we re-analyze existing transcriptomic data from simplex
families … Finally, we compare the WGCNA-derived data on autistic traits in simplex families with …

The broader autism phenotype in simplex and multiplex families

JA Gerdts, R Bernier, G Dawson, A Estes - Journal of autism and …, 2013 - Springer
simplex (S-mothers, S-fathers, and S-siblings) Autism spectrum disorder families were
assessed using the Broader Phenotype Autism … and intensity of broader autism phenotype traits …

[HTML][HTML] Recurrent de novo mutations implicate novel genes underlying simplex autism risk

BJ O'roak, HA Stessman, EA Boyle… - Nature …, 2014 - nature.com
… We targeted two well-described simplex (sporadic) ASD cohorts that meet ASD criteria on
both of the current gold-standard autism diagnostic assessments (Autism Diagnostic Interview-…

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline

LT Jiménez-Barrón, JA O'Rawe… - Molecular …, 2015 - molecularcasestudies.cshlp.org
… a more complete and reliable set of genomic variants for downstream analyses. Our study
focuses on the analysis of three simplex autism families consisting of one affected child, …

[HTML][HTML] Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

EM Padhi, TJ Hayeck, Z Cheng, S Chatterjee… - Human genomics, 2021 - Springer
… In this study, we assessed whole-genome sequencing data in 2671 families with autism (discovery
cohort of 516 families, replication cohort of 2155 families). We focused on DNVs in …

Genetics and genomics of autism spectrum disorder: embracing complexity

S De Rubeis, JD Buxbaum - Human molecular genetics, 2015 - academic.oup.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …