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Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
Trujillo MJ, Martinez-Gimeno M, Giménez A, Lorda I, Bueno J, García-Sandoval B, Ramos C, Carballo M, Ayuso C. Trujillo MJ, et al. Among authors: lorda i. Hum Mutat. 2001;17(1):80. doi: 10.1002/1098-1004(2001)17:1<80::AID-HUMU27>3.0.CO;2-G. Hum Mutat. 2001. PMID: 11139263 No abstract available.
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C. Sanchez-Alcudia R, et al. Among authors: lorda i. PLoS One. 2016 Apr 12;11(4):e0151943. doi: 10.1371/journal.pone.0151943. eCollection 2016. PLoS One. 2016. PMID: 27070432 Free PMC article.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Sanchez-Navarro I, et al. Among authors: lorda i. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.
Arteche-López A, Ávila-Fernández A, Romero R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C. Arteche-López A, et al. Among authors: lorda i. Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w. Sci Rep. 2021. PMID: 33707547 Free PMC article.
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.
Martinez-Garcia M, Ainse E, García-Hoyos M, Bustamante A, Cardero R, Ramos-Corrales C, Trujillo-Tiebas MJ, de Alba MR, Lorda I. Martinez-Garcia M, et al. Among authors: lorda i. J Assist Reprod Genet. 2011 Jul;28(7):621-6. doi: 10.1007/s10815-011-9569-x. Epub 2011 May 4. J Assist Reprod Genet. 2011. PMID: 21573680 Free PMC article. No abstract available.
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