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Paternally inherited cis-regulatory structural variants are associated with autism.
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Brandler WM, et al. Among authors: toma c. Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261. Science. 2018. PMID: 29674594 Free PMC article.
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, Cormand B, Toma C. Torrico B, et al. Among authors: toma c. Eur J Hum Genet. 2015 Dec;23(12):1694-701. doi: 10.1038/ejhg.2015.37. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782667 Free PMC article.
Common and rare variants of microRNA genes in autism spectrum disorders.
Toma C, Torrico B, Hervás A, Salgado M, Rueda I, Valdés-Mas R, Buitelaar JK, Rommelse N, Franke B, Freitag C, Reif A, Pérez-Jurado LA, Battaglia A, Mazzone L, Bacchelli E, Puente XS, Cormand B. Toma C, et al. World J Biol Psychiatry. 2015 Sep;16(6):376-386. doi: 10.3109/15622975.2015.1029518. Epub 2015 Apr 23. World J Biol Psychiatry. 2015. PMID: 25903372
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B. Sintas C, et al. Among authors: toma c. Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x. Sci Rep. 2017. PMID: 28566750 Free PMC article.
Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses.
Torrico B, Antón-Galindo E, Fernàndez-Castillo N, Rojo-Francàs E, Ghorbani S, Pineda-Cirera L, Hervás A, Rueda I, Moreno E, Fullerton JM, Casadó V, Buitelaar JK, Rommelse N, Franke B, Reif A, Chiocchetti AG, Freitag C, Kleppe R, Haavik J, Toma C, Cormand B. Torrico B, et al. Among authors: toma c. J Clin Med. 2020 Jun 13;9(6):1851. doi: 10.3390/jcm9061851. J Clin Med. 2020. PMID: 32545830 Free PMC article.
Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Toma C, et al. Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6. Psychiatr Genet. 2013. PMID: 23277129
545 results