Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

by Torrico, Bàrbara, Fernàndez-Castillo, Noèlia, Hervás, Amaia, Milà, Montserrat, Salgado, Marta, Rueda, Isabel, Buitelaar, Jan K, Rommelse, Nanda, Oerlemans, Anoek M, Bralten, Janita, Freitag, Christine M, Reif, Andreas, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Cormand, Bru, Toma, Claudio
Published in Eur J Hum Genet (2015)

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

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

Paternally inherited cis-regulatory structural variants are associated with autism

by Brandler, William M, Antaki, Danny, Gujral, Madhusudan, Kleiber, Morgan L, Whitney, Joe, Maile, Michelle S, Hong, Oanh, Chapman, Timothy R, Tan, Shirley, Tandon, Prateek, Pang, Timothy, Tang, Shih C, Vaux, Keith K, Yang, Yan, Harrington, Eoghan, Juul, Sissel, Turner, Daniel J, Thiruvahindrapuram, Bhooma, Kaur, Gaganjot, Wang, Zhuozhi, Kingsmore, Stephen F, Gleeson, Joseph G, Bisson, Denis, Kakaradov, Boyko, Telenti, Amalio, Venter, J Craig, Corominas, Roser, Toma, Claudio, Cormand, Bru, Rueda, Isabel, Guijarro, Silvina, Messer, Karen S, Nievergelt, Caroline M, Arranz, Maria J, Courchesne, Eric, Pierce, Karen, Muotri, Alysson R, Iakoucheva, Lilia M, Hervas, Amaia, Scherer, Stephen W, Corsello, Christina, Sebat, Jonathan
Published in Science (2018)