Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
HCN1 pathogenic variants associated with childhood epilepsy in a cohort of Chinese patients.
Yang Z et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.
Haase F et al.
International Journal of Molecular Sciences, 2021
Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.
Lefebvre C et al.
Plos Medicine, 2016
28027327 (PubMed )
Supplement: pmed.1002201.s012.xlsx › mutations
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