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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Mutational mechanisms of Williams-Beuren syndrome deletions.
Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA. Bayés M, et al. Am J Hum Genet. 2003 Jul;73(1):131-51. doi: 10.1086/376565. Epub 2003 Jun 9. Am J Hum Genet. 2003. PMID: 12796854 Free PMC article.
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.
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
Rodríguez-Santiago B, Brunet A, Sobrino B, Serra-Juhé C, Flores R, Armengol L, Vilella E, Gabau E, Guitart M, Guillamat R, Martorell L, Valero J, Gutiérrez-Zotes A, Labad A, Carracedo A, Estivill X, Pérez-Jurado LA. Rodríguez-Santiago B, et al. Mol Psychiatry. 2010 Oct;15(10):1023-33. doi: 10.1038/mp.2009.53. Epub 2009 Jun 16. Mol Psychiatry. 2010. PMID: 19528963
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
Madrigal I, Xunclà M, Tejada MI, Martínez F, Fernández-Carvajal I, Pérez-Jurado LA, Rodriguez-Revenga L, Milà M. Madrigal I, et al. Eur J Hum Genet. 2011 Aug;19(8):921-3. doi: 10.1038/ejhg.2011.41. Epub 2011 Mar 23. Eur J Hum Genet. 2011. PMID: 21427756 Free PMC article.
Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.
Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado LA, Caballero-Andaluz R, Diego-Otero Yd, Guzmán-Alvarez G, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B. Toma C, et al. World J Biol Psychiatry. 2013 Sep;14(7):516-27. doi: 10.3109/15622975.2011.602719. Epub 2012 Mar 8. World J Biol Psychiatry. 2013. PMID: 22397633
197 results