Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
Corton, Marta, Nishiguchi, Koji M, Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D, Ayuso, Carmen, Rivolta, Carlo
Published in PloS one (14.06.2013)
Published in PloS one (14.06.2013)
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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene
Arteche‐López, Ana, Avila‐Fernandez, Almudena, Damian, Alejandra, Soengas‐Gonda, Emma, Fuente, Rubén Pérez, Gómez, Patricia Ramos, Merlo, Jesús Gallego, Burgos, Laura Horcajada, Fernández, Carlos Cemillán, Rosales, Jose Miguel Lezana, Martínez, Juan Francisco González, Quesada‐Espinosa, Juan Francisco, Corton, Marta, Guerrero‐Molina, Maria Paz
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
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Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
Lukovic, Dunja, Artero Castro, Ana, Delgado, Ana Belen Garcia, Bernal, María de los Angeles Martín, Luna Pelaez, Noelia, Díez Lloret, Andrea, Perez Espejo, Rocío, Kamenarova, Kunka, Fernández Sánchez, Laura, Cuenca, Nicolás, Cortón, Marta, Avila Fernandez, Almudena, Sorkio, Anni, Skottman, Heli, Ayuso, Carmen, Erceg, Slaven, Bhattacharya, Shomi S
Published in Scientific reports (11.08.2015)
Published in Scientific reports (11.08.2015)
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Journal Article
Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
Riveiro-Alvarez, Rosa, PhD, Lopez-Martinez, Miguel-Angel, SLT, Zernant, Jana, MSc, Aguirre-Lamban, Jana, PhD, Cantalapiedra, Diego, BSc, Avila-Fernandez, Almudena, PhD, Gimenez, Ascension, SLT, Lopez-Molina, Maria-Isabel, MD, Garcia-Sandoval, Blanca, MD, PhD, Blanco-Kelly, Fiona, MD, PhD, Corton, Marta, PhD, Tatu, Sorina, BSc, Fernandez-San Jose, Patricia, BSc, Trujillo-Tiebas, Maria-Jose, PhD, Ramos, Carmen, PhD, Allikmets, Rando, PhD, Ayuso, Carmen, MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.11.2013)
Published in Ophthalmology (Rochester, Minn.) (01.11.2013)
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Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
Blanco-Kelly, Fiona, García-Hoyos, María, Cortón, Marta, Avila-Fernández, Almudena, Riveiro-Álvarez, Rosa, Giménez, Ascensión, Hernan, Inma, Carballo, Miguel, Ayuso, Carmen
Published in Molecular vision (05.06.2012)
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Published in Molecular vision (05.06.2012)
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Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
Fernandez‐San Jose, Patricia, Blanco‐Kelly, Fiona, Corton, Marta, Trujillo‐Tiebas, Maria‐Jose, Gimenez, Ascension, Avila‐Fernandez, Almudena, Garcia‐Sandoval, Blanca, Lopez‐Molina, Maria‐Isabel, Hernan, Inma, Carballo, Miguel, Riveiro‐Alvarez, Rosa, Ayuso, Carmen
Published in Acta ophthalmologica (Oxford, England) (01.02.2015)
Published in Acta ophthalmologica (Oxford, England) (01.02.2015)
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Journal Article
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients
Bhattacharya, Shomi S., Chakarova, Christina, López-Molina, Maria Isabel, Ávila-Fernández, Almudena, Panchev, Valentin, Fernández-San Jose, Patricia, García-Sandoval, Blanca, Corton, Marta, Kamenarova, Kunka, Ayuso, Carmen
Published in BioMed research international (01.01.2013)
Published in BioMed research international (01.01.2013)
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Journal Article
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
Martin-Merida, Inmaculada, Aguilera-Garcia, Domingo, Fernandez-San, Jose P, Blanco-Kelly, Fiona, Zurita, Olga, Almoguera, Berta, Garcia-Sandoval, Blanca, Avila-Fernandez, Almudena, Arteche, Ana, Minguez, Pablo, Carballo, Miguel, Corton, Marta, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.05.2018)
Published in Investigative ophthalmology & visual science (01.05.2018)
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Journal Article
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
Fernández-Caballero, Lidia, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Carreño, Ester, Fernandez-San Jose, Patricia, Irigoyen, Cristina, Jimenez-Rolando, Belen, Lopez-Grondona, Fermina, Mahillo, Ignacio, Martin-Gutierrez, María Pilar, Minguez, Pablo, Perea-Romero, Irene, Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Rodilla, Cristina, Rodriguez-Peña, Lidya, Sánchez-Barbero, Ana Isabel, Swafiri, Saoud T, Trujillo-Tiebas, María José, Zurita, Olga, García-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen
Published in International journal of molecular sciences (02.03.2024)
Published in International journal of molecular sciences (02.03.2024)
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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
Sanchez-Alcudia, Rocio, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel Angel, Sanchez-Bolivar, Noelia, Zurita, Olga, Gimenez, Ascension, Villaverde, Cristina, Rodrigues-Jacy da Silva, Luciana, Corton, Marta, Perez-Carro, Raquel, Torriano, Simona, Kalatzis, Vasiliki, Rivolta, Carlo, Avila-Fernandez, Almudena, Lorda, Isabel, Trujillo-Tiebas, Maria J, Garcia-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Ayuso, Carmen
Published in PloS one (12.04.2016)
Published in PloS one (12.04.2016)
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Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells
Artero-Castro, Ana, Long, Kathleen, Bassett, Andrew, Ávila-Fernandez, Almudena, Cortón, Marta, Vidal-Puig, Antonio, Jendelova, Pavla, Rodriguez-Jimenez, Francisco Javier, Clemente, Eleonora, Ayuso, Carmen, Slaven, Erceg
Published in International journal of molecular sciences (20.02.2021)
Published in International journal of molecular sciences (20.02.2021)
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Journal Article
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients
Fernandez-San Jose, Patricia, Corton, Marta, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Lopez-Martinez, Miguel Angel, Sanchez-Navarro, Iker, Sanchez-Alcudia, Rocio, Perez-Carro, Raquel, Zurita, Olga, Sanchez-Bolivar, Noelia, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Riveiro-Alvarez, Rosa, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.04.2015)
Published in Investigative ophthalmology & visual science (01.04.2015)
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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H, Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Ma Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Published in Scientific reports (25.01.2016)
Published in Scientific reports (25.01.2016)
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Journal Article
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo
Published in International journal of molecular sciences (01.08.2022)
Published in International journal of molecular sciences (01.08.2022)
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Journal Article
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
Pérez-Carro, Raquel, Blanco-Kelly, Fiona, Galbis-Martínez, Lilián, García-García, Gema, Aller, Elena, García-Sandoval, Blanca, Mínguez, Pablo, Corton, Marta, Mahíllo-Fernández, Ignacio, Martín-Mérida, Inmaculada, Avila-Fernández, Almudena, Millán, José M, Ayuso, Carmen
Published in PloS one (18.06.2018)
Published in PloS one (18.06.2018)
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Journal Article
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Npj genomic medicine (25.03.2021)
Published in Npj genomic medicine (25.03.2021)
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Journal Article
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Corton, Marta, Tatu, Sorina D, Avila-Fernandez, Almudena, Vallespín, Elena, Tapias, Ignacio, Cantalapiedra, Diego, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Bernal, Sara, García-Sandoval, Blanca, Baiget, Montserrat, Ayuso, Carmen
Published in Orphanet journal of rare diseases (05.02.2013)
Published in Orphanet journal of rare diseases (05.02.2013)
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Journal Article
Genomic Landscape of Sporadic Retinitis Pigmentosa
Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Del Pozo-Valero, Marta, Blanco-Kelly, Fiona, Zurita, Olga, Perez-Carro, Raquel, Aguilera-Garcia, Domingo, Riveiro-Alvarez, Rosa, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Tahsin-Swafiri, Saoud, Rodriguez-Pinilla, Elvira, Lorda-Sanchez, Isabel, Garcia-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen
Published in Ophthalmology (Rochester, Minn.) (01.08.2019)
Published in Ophthalmology (Rochester, Minn.) (01.08.2019)
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Journal Article
Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis
Avila-Fernandez, Almudena, PhD, Corton, Marta, PhD, Nishiguchi, Koji M., MD, Muñoz-Sanz, Nelida, MD, Benavides-Mori, Belen, SLT, Blanco-Kelly, Fiona, MD, PhD, Riveiro-Alvarez, Rosa, PhD, Garcia-Sandoval, Blanca, MD, PhD, Rivolta, Carlo, PhD, Ayuso, Carmen, MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.12.2012)
Published in Ophthalmology (Rochester, Minn.) (01.12.2012)
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