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Nature|March 7, 2022
Whole-genome sequencing reveals host factors underlying critical COVID-19Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, et al.American Journal of Human Genetics|June 11, 2021
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individualsJack A Kosmicki, Julie E Horowitz, Nilanjana Banerjee, et al.Nature Neuroscience|March 7, 2017
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorderRyan K C Yuen, Daniele Merico, Matt Bookman, et al.Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 23