G. García-García

发表

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

J. Millán, H. Bolz, M. Claustres, 2012, Human mutation.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

E. Aller, J. Millán, T. Jaijo, 2018, Scientific Reports.

USH2A is a Meissner’s corpuscle protein necessary for normal vibration sensing in mice and humans

J. Poulet, J. Millán, G. Lewin, 2020, Nature Neuroscience.

Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

E. Aller, J. Millán, J. Mullor, 2013, PloS one.

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

E. Aller, J. Millán, M. Claustres, 2013, Molecular vision.

USH2A Gene Editing Using the CRISPR System

E. Aller, J. Millán, R. Vázquez-Manrique, 2017, Molecular therapy. Nucleic acids.

Experience of targeted Usher exome sequencing as a clinical test

J. Millán, M. Claustres, S. Malcolm, 2013, Molecular genetics & genomic medicine.

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.

CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES

E. Aller, J. Millán, T. Jaijo, 2021, Retina.

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

M. Koenig, A. Roux, C. Hamel, 2018, Human mutation.

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

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

Genetic Screening of the Usher Syndrome in Cuba

E. Aller, J. Millán, T. Jaijo, 2019, Front. Genet..

Expanding the Genetic Landscape of Usher-Like Phenotypes.

H. Hakonarson, E. Aller, J. Millán, 2019, Investigative ophthalmology & visual science.

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

E. van Wijk, J. Millán, G. García-García, 2021, Human Genetics.

Novel mutations in the USH1C gene in Usher syndrome patients

E. Aller, J. Millán, M. Baiget, 2010, Molecular vision.

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

E. Aller, J. Millán, T. Jaijo, 2020, Genes.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

Functional analysis of splicing mutations in MYO7A and USH2A genes

E. Aller, I. Hernán, T. Jaijo, 2011, Clinical genetics.

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

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

Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies.

E. Aller, J. Millán, R. Gallego-Pinazo, 2020, The Journal of molecular diagnostics : JMD.

Usher Syndrome: Genetics of a Human Ciliopathy

E. Aller, J. Millán, T. Jaijo, 2021, International journal of molecular sciences.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

E. Aller, J. Millán, T. Jaijo, 2018, Scientific Reports.

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

D. Blesa, E. Aller, J. Millán, 2010, Investigative ophthalmology & visual science.

Alternative strategy to induce CRISPR-mediated genetic changes in hematopoietic cells

E. González-Romero, G. García-García, J. Millán, 2021, bioRxiv.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

L. Hetterschijt, E. van Wijk, T. Peters, 2016, Molecular therapy. Nucleic acids.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

C. Cremers, F. Kersten, E. van Wijk, 2010, Molecular vision.

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.

USH2A is a Meissner’s corpuscle protein necessary for normal vibration sensing in mice and humans

J. Poulet, J. Millán, G. Lewin, 2020, Nature Neuroscience.

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

E. Aller, J. Millán, T. Jaijo, 2022, Scientific Reports.

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

E. Aller, T. Jaijo, G. García-García, 2022, Scientific reports.

Antisense Oligonucleotide-based Splice Correction for USH 2 A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

L. Hetterschijt, E. van Wijk, T. Peters, 2016 .

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

E. Aller, J. Millán, A. Roux, 2014, Orphanet Journal of Rare Diseases.

Assessment of the latest NGS enrichment capture methods in clinical context

David Baux, Anne-Françoise Roux, Michel Koenig, 2016, Scientific Reports.

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

E. van Wijk, G. García-García, R. Schellens, 2021, Human Genetics.

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.

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

E. Aller, J. Millán, A. Roux, 2014, Molecular vision.

Genetic Testing for Rare Diseases

G. García-García, J. Millan, 2022, Diagnostics.

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease

J. Millán, T. Jaijo, G. García-García, 2017, Clinical chemistry and laboratory medicine.

USH2A is a skin end-organ protein necessary for vibration sensing in mice and humans

J. Poulet, J. Millán, G. Lewin, 2020, bioRxiv.

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

M. Koenig, A. Roux, J. Puechberty, 2020, Frontiers in Genetics.

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

J. Millán, G. García-García, Carla Fuster-García, 2020, Genes.

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

M. Armengot, E. Aller, J. Millán, 2013, PloS one.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

E. Aller, J. Millán, J. Rosell, 2012, Molecular vision.

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.

PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines

J. Millán, J. Cervera, R. Vázquez-Manrique, 2023, Cancers.

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

J. Millán, H. Bolz, M. Claustres, 2012, Human mutation.