@article{d26b3a9cff5649a6a65bbb7127f414a6,
title = "Recurrent de novo mutations implicate novel genes underlying simplex autism risk",
abstract = "Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong burden of de novo point mutations for these genes and specifically implicate nine genes. These include CHD2 and SYNGAP1, genes previously reported in related disorders, and novel genes TRIP12 and PAX5. We also show that mutation carriers generally have lower IQs and enrichment for seizures. These data begin to distinguish genetically distinct subtypes of autism important for aetiological classification and future therapeutics.",
author = "O'Roak, {B. J.} and Stessman, {H. A.} and Boyle, {E. A.} and Witherspoon, {K. T.} and B. Martin and C. Lee and L. Vives and C. Baker and Hiatt, {J. B.} and Nickerson, {D. A.} and R. Bernier and J. Shendure and Eichler, {E. E.}",
note = "Funding Information: This work was supported by grants from the Simons Foundation Autism Research Initiative (SFARI 191889 and 191889EE to E.E.E.). We are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren and E. Wijsman). We appreciate obtaining access to phenotypic data on SFARI Base. Approved researchers can obtain the SSC population data set described in this study (http://sfari.org/resources/simons-simplex-collection) by applying at https://base.sfari.org. We are grateful for manuscript preparation from T. Brown. E.E.E. is an investigator of the Howard Hughes Medical Institute.",
year = "2014",
doi = "10.1038/ncomms6595",
language = "English (US)",
volume = "5",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
}