Chiari malformation type I: a case-control association study of 58 developmental genes.

by Aintzane Urbizu, Claudio Toma, Maria A Poca, Juan Sahuquillo, Ester Cuenca-León, Bru Cormand, Alfons Macaya
Published 2013-01-01

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

by Claudio Toma, Kerrie D Pierce, Alex D Shaw, Anna Heath, Philip B Mitchell, Peter R Schofield, Janice M Fullerton
Published 2018-12-01

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

by Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini, Alfons Macaya, Bru Cormand
Published 2017-05-01

Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses

by Bàrbara Torrico, Ester Antón-Galindo, Noèlia Fernàndez-Castillo, Eva Rojo-Francàs, Sadaf Ghorbani, Laura Pineda-Cirera, Amaia Hervás, Isabel Rueda, Estefanía Moreno, Janice M. Fullerton, Vicent Casadó, Jan K. Buitelaar, Nanda Rommelse, Barbara Franke, Andreas Reif, Andreas G. Chiocchetti, Christine Freitag, Rune Kleppe, Jan Haavik, Claudio Toma, Bru Cormand
Published 2020-06-01