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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Cuscó I, et al. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. Hum Mol Genet. 2009. PMID: 19246517 Free PMC article.
Contribution of rare copy number variants to isolated human malformations.
Serra-Juhé C, Rodríguez-Santiago B, Cuscó I, Vendrell T, Camats N, Torán N, Pérez-Jurado LA. Serra-Juhé C, et al. Among authors: cusco i. PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3. PLoS One. 2012. PMID: 23056206 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. Among authors: cusco i. Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6. Psychiatr Genet. 2013. PMID: 23277129
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.
González JR, Cáceres A, Esko T, Cuscó I, Puig M, Esnaola M, Reina J, Siroux V, Bouzigon E, Nadif R, Reinmaa E, Milani L, Bustamante M, Jarvis D, Antó JM, Sunyer J, Demenais F, Kogevinas M, Metspalu A, Cáceres M, Pérez-Jurado LA. González JR, et al. Among authors: cusco i. Am J Hum Genet. 2014 Mar 6;94(3):361-72. doi: 10.1016/j.ajhg.2014.01.015. Epub 2014 Feb 20. Am J Hum Genet. 2014. PMID: 24560518 Free PMC article.
DNA methylation abnormalities in congenital heart disease.
Serra-Juhé C, Cuscó I, Homs A, Flores R, Torán N, Pérez-Jurado LA. Serra-Juhé C, et al. Among authors: cusco i. Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536. Epigenetics. 2015. PMID: 25587870 Free PMC article.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I. Codina-Solà M, et al. Among authors: cusco i. Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Mol Autism. 2015. PMID: 25969726 Free PMC article.
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