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Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.Medrxiv : the Preprint Server for Health Sciences|May 18, 2026
NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South AfricaPatricia Kipkemoi, Emily O'Heir, Mutaz Amin, et al.Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.Nature|April 13, 2012
Patterns and rates of exonic de novo mutations in autism spectrum disordersBenjamin M Neale, Yan Kou, Li Liu, et al.Science Translational Medicine|January 22, 2016
Quantifying prion disease penetrance using large population control cohortsEric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, et al.Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.Nature|August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, Konrad J Karczewski, Eric V Minikel, et al.Nature|September 15, 2016
High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.Pageof 6