Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack Fu, Ana Cristina De Sanctis Girardi, Stacey B. Gabriel et al.|Nature Genetics|2022Cited by 613
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Alison M. Muir, Christine L. Dixon et al.|Nature Communications|2019Cited by 249
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Curró, Chiara Gemelli, Natalia Dominik et al.|Brain|2024Cited by 28
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Laurent Pasquier, Stéphanie Valence et al.|European Journal of Human Genetics|2023Cited by 9
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotEnza Ferrero, Alfredo Brusco|Human Genetics|2023Cited by 9