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Select record 21
ArticlesPeer ReviewedFull Text
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
Author / Creator:Corton, Marta ; Nishiguchi, Koji M ; Avila-Fernández, Almudena ; Nikopoulos, Konstantinos ; Riveiro-Alvarez, Rosa ; Tatu, Sorina D ; Ayuso, Carmen ; Rivolta, Carlo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-06, Vol.8 (6), p.e65574-e65574
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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-01, Vol.6 (1), p.19531-19531, Article 19531
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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
Author / Creator:López-Rodríguez, Rosario ; Del Pozo-Valero, Marta ; Corton, Marta ; Minguez, Pablo ; Ruiz-Hornillos, Javier ; Pérez-Tomás, María Elena ; Barreda-Sánchez, María ; Mancebo, Esther ; Villaverde, Cristina ; Núñez-Moreno, Gonzalo ; Romero, Raquel ; Paz-Artal, Estela ; Guillén-Navarro, Encarna ; Almoguera, Berta ; Ayuso, Carmen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-06, Vol.12 (1), p.10369-10369, Article 10369
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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Author / Creator:Louie, Carrie M ; Caridi, Gianluca ; Lopes, Vanda S ; Brancati, Francesco ; Kispert, Andreas ; Lancaster, Madeline A ; Schlossman, Andrew M ; Otto, Edgar A ; Leitges, Michael ; Gröne, Hermann-Josef ; Lopez, Irma ; Gudiseva, Harini V ; O'Toole, John F ; Vallespin, Elena ; Ayyagari, Radha ; Ayuso, Carmen ; Cremers, Frans P M ; den Hollander, Anneke I ; Koenekoop, Robert K ; Dallapiccola, Bruno ; Ghiggeri, Gian Marco ; Hildebrandt, Friedhelm ; Valente, Enza Maria ; Williams, David S ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-02, Vol.42 (2), p.175-180
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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-04, Vol.11 (4), p.e0151943-e0151943
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Liver cancer risk and changes in lifestyle habits after successful hepatitis C virus therapy post-DAA HCV therapy: lifestyle changes and liver cancer risk
Author / Creator:Granel, Núria ; Iserte, Gemma ; Bartres, Concepció ; Llarch, Neus ; Pla, Anna ; Sapena, Víctor ; Mariño, Zoe ; Lens, Sabela ; Vilana, Ramón ; Nuñez, Isabel ; Darnell, Anna ; Belmonte, Ernest ; García-Criado, Ángeles ; Díaz, Alba ; Sanduzzi-Zamparelli, Marco ; Fuster, Carla ; Muñoz-Martínez, Sergio ; Ayuso, Carmen ; Rimola, Jordi ; Forner, Alejandro ; Soler, Alexandre ; Torres, Ferran ; Ríos, José ; Bruix, Jordi ; Moon, Andrew M ; Forns, Xavier ; Reig, María
Publisher:England: BioMed Central Ltd
Journal title:BMC gastroenterology, 2025-02, Vol.25 (1), p.51-10, Article 51
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Select record 27
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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Author / Creator:Damián, Alejandra ; Núñez-Moreno, Gonzalo ; Jubin, Claire ; Tamayo, Alejandra ; de Alba, Marta Rodríguez ; Villaverde, Cristina ; Fund, Cédric ; Delépine, Marc ; Leduc, Aurélie ; Deleuze, Jean François ; Mínguez, Pablo ; Ayuso, Carmen ; Corton, Marta
Publisher:England: BioMed Central
Journal title:Human genomics, 2023-06, Vol.17 (1), p.45-45, Article 45
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Select record 28
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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-06, Vol.13 (6), p.e0199048
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Select record 29
ArticlesPeer ReviewedFull Text
Diagnostic accuracy of magnetic resonance colonography for the evaluation of disease activity and severity in ulcerative colitis: a prospective study
Author / Creator:Ordás, Ingrid ; Rimola, Jordi ; García-Bosch, Orlando ; Rodríguez, Sonia ; Gallego, Marta ; Etchevers, María Josefina ; Pellisé, María ; Feu, Faust ; González-Suárez, Begoña ; Ayuso, Carmen ; Ricart, Elena ; Panés, Julián
Publisher:England: BMJ Publishing Group Ltd and British Society of Gastroenterology
Journal title:Gut, 2013-11, Vol.62 (11), p.1566-1572
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Select record 30
ArticlesPeer ReviewedFull Text
USH2A Gene Editing Using the CRISPR System
Author / Creator:Fuster-García, Carla ; García-García, Gema ; González-Romero, Elisa ; Jaijo, Teresa ; Sequedo, María D. ; Ayuso, Carmen ; Vázquez-Manrique, Rafael P. ; Millán, José M. ; Aller, Elena
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy. Nucleic acids, 2017-09, Vol.8, p.529-541
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Select record 31
ArticlesPeer ReviewedFull Text
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10
Author / Creator:Hervás-Salcedo, Rosario ; Fernández-García, María ; Hernando-Rodríguez, Miriam ; Quintana-Bustamante, Oscar ; Segovia, Jose-Carlos ; Alvarez-Silva, Marcio ; García-Arranz, Mariano ; Minguez, Pablo ; Del Pozo, Victoria ; de Alba, Marta Rodríguez ; García-Olmo, Damián ; Ayuso, Carmen ; Lamana, María Luisa ; Bueren, Juan A ; Yañez, Rosa María
Publisher:England: BioMed Central Ltd
Journal title:Stem cell research & therapy, 2021-02, Vol.12 (1), p.124-124, Article 124
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Select record 32
ArticlesPeer ReviewedFull Text
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
Author / Creator:Dueñas Rey, Alfredo ; Del Pozo Valero, Marta ; Bouckaert, Manon ; Wood, Katherine A ; Van den Broeck, Filip ; Daich Varela, Malena ; Thomas, Huw B ; Van Heetvelde, Mattias ; De Bruyne, Marieke ; Van de Sompele, Stijn ; Bauwens, Miriam ; Lenaerts, Hanne ; Mahieu, Quinten ; Josifova, Dragana ; Rivolta, Carlo ; O'Keefe, Raymond T ; Ellingford, Jamie ; Webster, Andrew R ; Arno, Gavin ; Ayuso, Carmen ; De Zaeytijd, Julie ; Leroy, Bart P ; De Baere, Elfride ; Coppieters, Frauke
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-01, Vol.16 (1), p.7-21, Article 7
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Select record 33
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Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenot...
Author / Creator:Sanchez-Jimeno, Carolina ; Blanco-Kelly, Fiona ; López-Grondona, Fermina ; Losada-Del Pozo, Rebeca ; Moreno, Beatriz ; Rodrigo-Moreno, María ; Martinez-Cayuelas, Elena ; Riveiro-Alvarez, Rosa ; Fenollar-Cortés, María ; Ayuso, Carmen ; Rodríguez de Alba, Marta ; Lorda-Sanchez, Isabel ; Almoguera, Berta
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (9), p.1360
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Select record 34
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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
Author / Creator:Blanco-Kelly, Fiona ; Palomares, María ; Vallespín, Elena ; Villaverde, Cristina ; Martín-Arenas, Rubén ; Vélez-Monsalve, Camilo ; Lorda-Sánchez, Isabel ; Nevado, Julián ; Trujillo-Tiebas, María José ; Lapunzina, Pablo ; Ayuso, Carmen ; Corton, Marta
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-02, Vol.12 (2), p.e0172363-e0172363
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Select record 35
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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
Author / Creator:Marakhonov, Andrey V ; Voskresenskaya, Anna A ; Ballesta, Maria Jose ; Konovalov, Fedor A ; Vasilyeva, Tatyana A ; Blanco-Kelly, Fiona ; Pozdeyeva, Nadezhda A ; Kadyshev, Vitaly V ; López-González, Vanesa ; Guillen, Encarna ; Ayuso, Carmen ; Zinchenko, Rena A ; Corton, Marta
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.207-10, Article 207
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Select record 36
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Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2015-08, Vol.5 (1), p.12910-12910, Article 12910
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Select record 37
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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability
Author / Creator:Medina-Trillo, Cristina ; Sánchez-Sánchez, Francisco ; Aroca-Aguilar, José-Daniel ; Ferre-Fernández, Jesús-José ; Morales, Laura ; Méndez-Hernández, Carmen-Dora ; Blanco-Kelly, Fiona ; Ayuso, Carmen ; García-Feijoo, Julián ; Escribano, Julio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0119272-e0119272
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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-03, Vol.6 (1), p.25-25, Article 25
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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
Author / Creator:Blanco-Kelly, Fiona ; García Hoyos, María ; Lopez Martinez, Miguel Angel ; Lopez-Molina, Maria Isabel ; Riveiro-Alvarez, Rosa ; Fernandez-San Jose, Patricia ; Avila-Fernandez, Almudena ; Corton, Marta ; Millan, Jose M ; García Sandoval, Blanca ; Ayuso, Carmen
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-02, Vol.11 (2), p.e0149473-e0149473
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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
Author / Creator:Zazo-Seco, Celia ; Plaisancié, Julie ; Bitoun, Pierre ; Corton, Marta ; Arteche, Ana ; Ayuso, Carmen ; Schneider, Adele ; Zafeiropoulou, Dimitra ; Gilissen, Christian ; Roche, Olivier ; Frémont, Felix ; Calvas, Patrick ; Slavotinek, Anne ; Ragge, Nicola ; Chassaing, Nicolas
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-05, Vol.65 (5), p.487-491
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Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

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Liver cancer risk and changes in lifestyle habits after successful hepatitis C virus therapy post-DAA HCV therapy: lifestyle changes and liver cancer risk

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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

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Diagnostic accuracy of magnetic resonance colonography for the evaluation of disease activity and severity in ulcerative colitis: a prospective study

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USH2A Gene Editing Using the CRISPR System

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Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10

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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

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Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenot...

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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

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Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability

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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

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