Author
University of Campania "Luigi Vanvitelli"ORCID 0000-0002-3378-5006Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor…·Brage Storstein Andresen
The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.
German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski
This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas
This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Francesco Musacchia, Marianthi Karali, Annalaura Torella…·Sandro Banfi
VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.
Elisa Benetti, Rossella Tita, Ottavia Spiga…·Carmelo Piscopo
The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.