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

Autor 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
Vydáno v Eur J Hum Genet (2015)

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

Autor 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
Vydáno v J Clin Med (2020)

Paternally inherited cis-regulatory structural variants are associated with autism

Autor 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
Vydáno v Science (2018)