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Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.Nature Genetics|July 26, 2016
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosisWouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, et al.Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.Human Molecular Genetics|July 18, 2022
Detailed stratified GWAS analysis for severe COVID-19 in four European populationsFrauke Degenhardt, David Ellinghaus, Simonas Juzenas, et al.Pageof 15