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Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort
Author / Creator:Carrizosa-Molina, Tamara ; Casillas-Díaz, Natalia ; Pérez-Nadador, Iris ; Vales-Villamarín, Claudia ; López-Martínez, Miguel Ángel ; Riveiro-Álvarez, Rosa ; Wilhelm, Larry ; Cervera-Juanes, Rita ; Garcés, Carmen ; Lomniczi, Alejandro ; Soriano-Guillén, Leandro
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2023-12, Vol.15 (1), p.191-191, Article 191
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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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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases
Author / Creator:Romero, Raquel ; de la Fuente, Lorena ; Del Pozo-Valero, Marta ; Riveiro-Álvarez, Rosa ; Trujillo-Tiebas, María José ; Martín-Mérida, Inmaculada ; Ávila-Fernández, Almudena ; Iancu, Ionut-Florin ; Perea-Romero, Irene ; Núñez-Moreno, Gonzalo ; Damián, Alejandra ; Rodilla, Cristina ; Almoguera, Berta ; Cortón, Marta ; Ayuso, Carmen ; Mínguez, Pablo
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2022-01, Vol.7 (1), p.7-7, Article 7
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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
Author / Creator:Iancu, Ionut-Florin ; Avila-Fernandez, Almudena ; Arteche, Ana ; Trujillo-Tiebas, Maria Jose ; Riveiro-Alvarez, Rosa ; Almoguera, Berta ; Martin-Merida, Inmaculada ; Del Pozo-Valero, Marta ; Perea-Romero, Irene ; Corton, Marta ; Minguez, Pablo ; Ayuso, Carmen
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2021-02, Vol.6 (1), p.18-18, Article 18
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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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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
Author / Creator: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
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-08, Vol.23 (15), p.8431
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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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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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ArticlesPeer ReviewedFull Text
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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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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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.20-20, Article 20
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ArticlesPeer ReviewedFull Text
Correction: 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, 2016-03, Vol.11 (3), p.e0153121-e0153121
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ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
Author / Creator:Almoguera, Berta ; Riveiro-Alvarez, Rosa ; Lopez-Castroman, Jorge ; Dorado, Pedro ; Lopez-Rodriguez, Rosario ; Fernandez-Navarro, Pablo ; Baca-García, Enrique ; Fernandez-Piqueras, Jose ; Dal-Ré, Rafael ; Abad-Santos, Francisco ; Llerena, Adrián ; Ayuso, Carmen
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2011-06, Vol.12 (1), p.81-81
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Author / Creator:Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F. ; Del Pozo-Valero, Marta ; Almoguera, Berta ; Blanco-Kelly, Fiona ; Carreño, Ester ; Jimenez-Rolando, Belen ; Lopez-Rodriguez, Rosario ; Lorda-Sanchez, Isabel ; Martin-Merida, Inmaculada ; Pérez de Ayala, Lucia ; Riveiro-Alvarez, Rosa ; Rodriguez-Pinilla, Elvira ; Tahsin-Swafiri, Saoud ; Trujillo-Tiebas, Maria J. ; Garcia-Sandoval, Blanca ; Minguez, Pablo ; Avila-Fernandez, Almudena ; Corton, Marta ; Ayuso, Carmen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-01, Vol.11 (1), p.1526-1526, Article 1526
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IPRPH2/I-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
Author / Creator: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 ; Ma ; 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
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2024-03, Vol.25 (5)
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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-03, Vol.25 (5), p.2913
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Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects
Author / Creator:Gomez-Sanchez, Clara I. ; Carballo, Juan J. ; Riveiro-Alvarez, Rosa ; Soto-Insuga, Victor ; Rodrigo, Maria ; Mahillo-Fernandez, Ignacio ; Abad-Santos, Francisco ; Dal-Ré, Rafael ; Ayuso, Carmen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-09, Vol.7 (1), p.10391-8, Article 10391
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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Author / Creator:Sanchez-Navarro, Iker ; R. J. da Silva, Luciana ; Blanco-Kelly, Fiona ; Zurita, Olga ; Sanchez-Bolivar, Noelia ; Villaverde, Cristina ; Lopez-Molina, Maria Isabel ; Garcia-Sandoval, Blanca ; Tahsin-Swafiri, Saoud ; Minguez, Pablo ; Riveiro-Alvarez, Rosa ; Lorda, Isabel ; Sanchez-Alcudia, Rocío ; Perez-Carro, Raquel ; Valverde, Diana ; Liu, Yichuan ; Tian, Lifeng ; Hakonarson, Hakon ; Avila-Fernandez, Almudena ; Corton, Marta ; Ayuso, Carmen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-03, Vol.8 (1), p.5285-11, Article 5285
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Author / Creator:Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F. ; Del Pozo-Valero, Marta ; Almoguera, Berta ; Blanco-Kelly, Fiona ; Carreño, Ester ; Jimenez-Rolando, Belen ; Lopez-Rodriguez, Rosario ; Lorda-Sanchez, Isabel ; Martin-Merida, Inmaculada ; Pérez de Ayala, Lucia ; Riveiro-Alvarez, Rosa ; Rodriguez-Pinilla, Elvira ; Tahsin-Swafiri, Saoud ; Trujillo-Tiebas, Maria J. ; Garcia-Sandoval, Blanca ; Minguez, Pablo ; Avila-Fernandez, Almudena ; Corton, Marta ; Ayuso, Carmen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-05, Vol.11 (1), p.10340-10340, Article 10340
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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
Author / Creator:Blanco-Kelly, Fiona ; Rodrigues-Jacy da Silva, Luciana ; Sanchez-Navarro, Iker ; Riveiro-Alvarez, Rosa ; Lopez-Martinez, Miguel Angel ; Corton, Marta ; Ayuso, Carmen
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2017-01, Vol.18 (1), p.1-1, Article 1
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Showing 1 to 20 of 31 results

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Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort

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

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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

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Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

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

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

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

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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

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Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

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ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

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IPRPH2/I-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

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Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects

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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

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