cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processingCarolina Uggenti, Hilde Van Esch, Alice Lepelley et al.|Nature Genetics|2020Cited by 199
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsyKatrine M. Johannesen, Rikke S. Møller, Melissa Rumple et al.|Epilepsia|2019Cited by 93
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Cristina Cereda, Vanessa Cavallera et al.|Journal of Clinical Medicine|2019Cited by 46
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiencySilvia Masnada, Davide Tonduti, Cecilia Parazzini et al.|European Journal of Paediatric Neurology|2020Cited by 33
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor SyndromeMassimiliano Filosto, Alessandro Padovani, Stefano Cotti Piccinelli et al.|Journal of Clinical Medicine|2018Cited by 28