A. Avila-Fernandez

发表

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Jeroen B. Klevering, C. Hoyng, P. Sergouniotis, 2020, Journal of Medical Genetics.

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

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

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.

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

C. Ayuso, A. Avila-Fernandez, B. García-Sandoval, 2011, Molecular vision.

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.

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.

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.

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.

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

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

Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells

Andrew R. Bassett, A. Vidal-Puig, M. Cortón, 2021, International journal of molecular sciences.

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

M. Mohamed, M. McKibbin, C. Inglehearn, 2022, Molecular vision.

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.

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.

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.

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

R. Wilke, E. Vallespín, C. Ayuso, 2008, Investigative ophthalmology & visual science.

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

E. Aller, M. Cortón, I. Mahíllo-Fernández, 2018, PloS one.

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.

Late onset retinitis pigmentosa.

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

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.

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.

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

E. Aller, J. Millán, T. Jaijo, 2015, JAMA ophthalmology.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

H. Hakonarson, E. Aller, J. Millán, 2020, Molecular vision.

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

M. Cortón, E. Carreño, D. Valverde, 2022, npj Genomic Medicine.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

J. Dopazo, F. García-García, M. Cortón, 2016, Scientific Reports.

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.

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

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

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

B. J. Klevering, E. Zrenner, T. de Ravel, 2012, Archives of ophthalmology.

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

V. Sheffield, E. Stone, D. Nishimura, 2010, American journal of 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.

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.

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

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

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

E. Aller, J. Millán, G. Antiñolo, 2010, Investigative ophthalmology & visual science.

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.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Silvio Alessandro Di Gioia, C. Rivolta, M. Cortón, 2015, Scientific Reports.

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.

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

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

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.

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2017, Investigative ophthalmology & visual science.

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.

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.

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.

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2012, Molecular vision.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

C. Rivolta, E. Berson, P. Benaglio, 2014, Molecular vision.

Clinical Study Novel GUCA 1 A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone , Cone-Rod , and Macular Dystrophy Patients

S. Bhattacharya, M. Cortón, C. Ayuso, 2014 .

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

S. Bhattacharya, M. Cortón, C. Ayuso, 2013, BioMed research international.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

B. J. Klevering, Silvio Alessandro Di Gioia, C. Rivolta, 2014, Ophthalmology.

Five years’ experience of the clinical exome sequencing in a Spanish single center

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2022, Scientific Reports.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Xavier Zanlonghi, Joe G Hollyfield, Gilles Labesse, 2013, American journal of human genetics.

BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

B. J. Klevering, E. Zrenner, D. Sharon, 2012 .

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.

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.

A crowdsourcing database for the copy-number variation of the Spanish population

Jose L. Fernandez-Rueda, Luis Antonio Castaño, J. Dopazo, 2023, Human Genomics.

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

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

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

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.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

B. J. Klevering, S. Riazuddin, M. Cortón, 2015, British Journal of Ophthalmology.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

E. Aller, J. Millán, M. Baiget, 2011, Orphanet journal of rare diseases.

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2018, Investigative ophthalmology & visual science.

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.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2009, Human Genetics.

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.

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.

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

E. Carreño, C. Ayuso, B. Jimenez-Rolando, 2022, European journal of ophthalmology.

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

Juan Francisco González Martínez, M. Cortón, A. Avila-Fernandez, 2022, Clinical genetics.

Generalized dystonia without Parkinsonism in an LRRK2 carrier

A. Avila-Fernandez, I. Lorda‐Sánchez, P. Garcia-Ruiz, 2022, Clinical Parkinsonism & Related Disorders.

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

T. Jaijo, E. Carreño, C. Ayuso, 2021, Acta ophthalmologica.

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

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

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.

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

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

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

C. Gilissen, S. Roosing, J. Ruiz-Ederra, 2023, Frontiers in 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.

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.

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2018, Investigative ophthalmology & visual science.

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

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

C. Rivolta, E. Berson, P. Benaglio, 2014, Molecular vision.

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

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