Documentación

Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin , Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton. Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases. 2023. Hum Genomics.

Parrado, A., Rubio, G., Serrano, M., De la Morena-Barrio, M.E., Ibáñez-Micó, S., Ruiz-Lafuente, N., Schwartz-Albiez, R., Esteve-Solé, A., Alsina, L., Corral, J., Hernández-Caselles. T. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies. 2022. Glycobiology.

Luque, J., Mendes, I., Gómez, B., Morte, B., López de Heredia, M., Herreras, E., Corrochano, V., Bueren, J., Gallano, P., Artuch, R., Fillat, C., Pérez-Jurado, L.A., Montoliu, Ll., Carracedo, A., Millán, J.M., Webb, S.M., Palau, F., CIBERER Network; Lapunzina, P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. 2022. Clin Genet.

Mollá B, Muñoz-Lasso DC, Calap P, Fernandez-Vilata A, de la Iglesia-Vaya M, Pallardó FV, Moltó MD, Palau F, Gonzalez-Cabo P. Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich’s Ataxia Mouse Model. 2019. Neurotherapeutics.

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J. ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism. 2018. PLoS One.

García-Giménez JL, Rubio-Belmar PA, Peiró-Chova L, Hervás D, González-Rodríguez D, Ibañez-Cabellos JS, Bas-Hermida P, Mena-Mollá S, García-López EM, Pallardó FV, Bas T. Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. 2018. Sci Rep.

Seco-Cervera M, González-Rodríguez D, Ibáñez-Cabellos JS, Peiró-Chova L, Pallardó FV, García-Giménez JL Data Descriptor: Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia patients. 2018. Scientific Data – Nature.

Consuegra I, Rodríguez-Aierbe C, Santiuste I, Bosch A, Martínez-Marín R, Fortuto MA, Díaz T, Martí S, Muñoz-Fernández MÁ. Isolation Methods of Peripheral Blood Mononuclear Cells in Spanish Biobanks: An Overview. 2017. Biopreserv Biobank.

Seco-Cervera M, González-Rodríguez D, Ibáñez-Cabellos JS, Peiró-Chova L, González-Cabo P, García-López E, Vílchez JJ, Sanz-Gallego I, Pallardó FV, García-Giménez JL. Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients. 2017. Sci Rep.

Martí S, León M, Orellana C, Prieto J, Ponsoda X, López-García C, Vílchez JJ, Sevilla T, Torres J. Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene. 2017. Stem Cell Res.

Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. 2017. Sci Rep.

Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E. Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation. 2016. Mol Ther Nucleic Acids.

Corton M, Avila-Fernández A, Campello L, Sánchez M, Benavides B, López-Molina MI, Fernández-Sánchez L, Sánchez-Alcudia R, da Silva LRJ, Reyes N, Martín-Garrido E, Zurita O, Fernández-San José P, Pérez-Carro R, García-García F, Dopazo J, García-Sandoval B, Cuenca N, Ayuso C. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.2016. Sci Rep.

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. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. 2016. PLoS One

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. 2016. Scientific Reports – Nature

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 2016 Brain

Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 2016 PLoS One.

Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, ÁvilaFernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 2015 JAMA Ophthalmology

Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, PerezCarro R, Zurita O, Sanchez-Bolivar N, LopezMolina MI, Garcia-Sandoval B, RiveiroAlvarez R, Ayuso C. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. 2015 Investigative Ophthalmology and Visual Science Riveiro

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, LopezMartinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. 2015 Hum Mol Genet 5

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. 2015 Eur J Neurol

Pla-Martín D, Calpena E, Lupo V, Márquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espinós C. Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. 2015 Hum Mol Genet

Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, GarcíaSandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. 2015 PLoS One

Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, Díez Lloret A, Perez Espejo R, Kamenarova K, Fernández Sánchez L, Cuenca N, Cortón M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa. 2015 Scientific Reports – Nature

Lupo, V ; Garcia-Garcia, F; Sancho, P ; Tello, C; Garcia-Romero, M; Villarreal, L; Alberti, A; Sivera, R; Dopazo, J ; Pascual-Pascual, SI; Marquez-Infante, C; Casasnovas, C; Sevilla, T; Espinos, C. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 2016 J Mol Diagn

Vincenzo Lupo, Samuel I Pascual-Pascual, Manuel Gutiérrez-Molina, Gonzalo MateoMartínez, Carmen Espinós, Gema ArriolaPereda. Complexity of the phenotypes due to mutations in the MPZ gene: Clinical and cellular characterization of the MPZ p.D90E mutation. 2014

Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona BlancoKelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating and Carmen Ayuso. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 2014

Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C. Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. 2014

Eduardo Calpena, Dolores Martínez-Rubio, Javier Arpa, Juan J García-Peñas, David Montaner D, Joaquín Dopazo, Francesc Palau, Carmen Espinós. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. 2014

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.2014