@article{c094baf67e0e4824838514ed3e3426e6,
title = "A framework for an evidence-based gene list relevant to autism spectrum disorder",
abstract = "Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.",
author = "Schaaf, {Christian P.} and Catalina Betancur and Yuen, {Ryan K.C.} and Parr, {Jeremy R.} and Skuse, {David H.} and Louise Gallagher and Bernier, {Raphael A.} and Buchanan, {Janet A.} and Buxbaum, {Joseph D.} and Chen, {Chun An} and Dies, {Kira A.} and Mayada Elsabbagh and Firth, {Helen V.} and Thomas Frazier and Ny Hoang and Jennifer Howe and Marshall, {Christian R.} and Michaud, {Jacques L.} and Olivia Rennie and Peter Szatmari and Chung, {Wendy K.} and Bolton, {Patrick F.} and Cook, {Edwin H.} and Scherer, {Stephen W.} and Vorstman, {Jacob A.S.}",
note = "Funding Information: C.P.S. is supported by CDMRP Grant AR160154, the Foundation for Prader-Willi Research, the NR2F1 Foundation and the USP7 Foundation. K.A.D. is supported by the Boston Children{\textquoteright}s Hospital Neuroscience Clinical Cluster grant. E.H.C. is supported by National Institute of Mental Health (NIMH) grant R01MH110920. P.S. is supported by Canadian Institutes of Health Research (CIHR) funding. S.W.S. is supported by the GlaxoSmithKline–CIHR Endowed Chair in Genome Sciences at the Hospital for Sick Children and University of Toronto. J.A.S.V. is funded by NIMH grant 1U01MH119741–01 and CIHR. Publisher Copyright: {\textcopyright} 2020, Springer Nature Limited.",
year = "2020",
month = jun,
day = "1",
doi = "10.1038/s41576-020-0231-2",
language = "English",
volume = "21",
pages = "367--376",
journal = "Nature Reviews Genetics",
issn = "1471-0056",
publisher = "Nature Publishing Group",
number = "6",
}