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

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado no J Clin Med (2020)

Paternally inherited cis-regulatory structural variants are associated with autism

Por 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
Publicado no Science (2018)