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Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, 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.Nature|July 23, 2025
Complex genetic variation in nearly complete human genomesGlennis A Logsdon, Peter Ebert, Peter A Audano, et al.Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, 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.Biorxiv : the Preprint Server for Biology|October 7, 2024
Complex genetic variation in nearly complete human genomesGlennis A Logsdon, Peter Ebert, Peter A Audano, 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.Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.Pageof 10