R. Riveiro-Alvarez

发表

M. Cortón, C. Ayuso, B. Jimenez-Rolando, 2021, medRxiv.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

C. Rivolta, M. Cortón, C. Ayuso, 2012, Ophthalmology.

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

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2019, Ophthalmology.

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

E. Aller, J. Millán, C. Gilissen, 2016, Scientific Reports.

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

E. Aller, J. Millán, C. Gilissen, 2016, Scientific Reports.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2014, Investigative ophthalmology & visual science.

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

C. Rivolta, M. Cortón, C. Ayuso, 2013, PloS one.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Á. Carracedo, F. Cremers, M. Cortón, 2014, Ophthalmology.

Analysis of the ABCA4 genomic locus in Stargardt disease.

J. Lupski, P. Gouras, S. Tsang, 2014, Human molecular genetics.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

E. Vallespín, C. Ayuso, R. Riveiro-Álvarez, 2008, Molecular vision.

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2015, Investigative ophthalmology & visual science.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.

M. Baiget, C. Ayuso, D. Valverde, 2006, Molecular vision.

Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population

E. Baca-García, J. Fernández-Piqueras, J. López-Castromán, 2012, The Pharmacogenomics Journal.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

J. Dopazo, F. García-García, M. Cortón, 2015, Human molecular genetics.

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

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, npj Genomic Medicine.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2022, medRxiv.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, JAMA ophthalmology.

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2015, Acta ophthalmologica.

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

M. Baiget, M. Cortón, E. Vallespín, 2013, Orphanet Journal of Rare Diseases.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

R. Wilke, E. Vallespín, C. Ayuso, 2008, Molecular vision.

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

R. Wilke, E. Vallespín, C. Ayuso, 2007, Investigative ophthalmology & visual science.

Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2007, Human Genetics.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2007, Human Genetics.

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

H. Hakonarson, M. Cortón, C. Ayuso, 2018, Scientific Reports.

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

C. Ayuso, A. Avila-Fernandez, R. Riveiro-Álvarez, 2010, Investigative ophthalmology & visual science.

Evaluating a newly developed pharmacogenetic array: screening in a Spanish population.

J. Fernández-Piqueras, A. Llerena, R. Dal-Ré, 2010, Pharmacogenomics.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

R. Allikmets, M. Cortón, J. Zernant, 2013, Ophthalmology.

Genotype-phenotype correlations in a Spanish cohort of 506 families with bi-allelic ABCA4 pathogenic variants.

C. Rivolta, M. Cortón, I. Mahíllo-Fernández, 2020, American journal of ophthalmology.

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2011, Investigative ophthalmology & visual science.

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis

M. Castelo‐Branco, C. Ayuso, J. Aguirre-Lambán, 2009, Molecular vision.

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2008, British Journal of Ophthalmology.

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2008, British Journal of Ophthalmology.

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

J. Millán, G. Antiñolo, M. Baiget, 2007, Investigative ophthalmology & visual science.

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

E. Vallespín, C. Ayuso, D. Valverde, 2007, Molecular vision.

Late onset retinitis pigmentosa.

F. Cremers, M. Cortón, C. Ayuso, 2011, Ophthalmology.

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, Scientific Reports.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2021, NPJ genomic medicine.

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-Phenotype Correlation

C. Ayuso, B. Almoguera, F. Blanco-Kelly, 2021, Genes.

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

H. Hakonarson, L. Tian, M. Cortón, 2018, Scientific Reports.

CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment.

E. Baca-García, J. Fernández-Piqueras, J. López-Castromán, 2013, Pharmacogenetics and genomics.

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

F. Cremers, E. Aller, J. Millán, 2010, Molecular vision.

Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children

R. Dal-Ré, J. Carballo, I. Mahíllo-Fernández, 2015, Behavioral and Brain Functions.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

E. Vallespín, C. Ayuso, D. Cantalapiedra, 2005, Human genetics.

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

R. Dal-Ré, J. Carballo, I. Mahíllo-Fernández, 2017, Scientific Reports.

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2010, Human genetics.

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

J. Millán, M. Cortón, C. Ayuso, 2016, PloS one.

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

C. Rivolta, M. Cortón, C. Ayuso, 2016, PloS one.

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

E. Baca-García, J. Fernández-Piqueras, P. Fernández-Navarro, 2011, BMC Medical Genetics.

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2007, Molecular vision.

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

C. Rivolta, M. Cortón, C. Ayuso, 2019, American journal of ophthalmology.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

Gene symbol: NDP. Disease: Norrie disease.

E. Vallespín, C. Ayuso, D. Cantalapiedra, 2006, Human genetics.

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

C. Ayuso, M. García-Hoyos, D. Cantalapiedra, 2005, Molecular vision.

Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty

M. Trujillo-Tiebas, L. Soriano-Guillén, M. López-Martínez, 2016, Hormone Research in Paediatrics.

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

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2022, NPJ genomic medicine.

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

M. Cortón, A. Avila-Fernandez, B. Almoguera, 2022, npj Genomic Medicine.

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2008, British Journal of Ophthalmology.

M. Cortón, B. Jimenez-Rolando, A. Avila-Fernandez, 2024, International journal of molecular sciences.

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

M. Baiget, C. Ayuso, A. Avila-Fernandez, 2009, Investigative ophthalmology & visual science.

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

C. Rivolta, M. Cortón, C. Ayuso, 2016, PLoS ONE.