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Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.American Journal of Human Genetics|November 6, 2020
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of AutismHui Guo, Qiumeng Zhang, Rujia Dai, et al.Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.Science Advances|October 4, 2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.Pageof 16