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

著者: 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
出版年 Eur J Hum Genet (2015)

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

著者: 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
出版年 J Clin Med (2020)

Paternally inherited cis-regulatory structural variants are associated with autism

著者: 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
出版年 Science (2018)