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

Molecular therapy. Nucleic acids, 2016, Vol.5 (10), p.e381-e381, Article e381

2016

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Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1054-1059

2013

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Usher Syndrome: Genetics of a Human Ciliopathy

International journal of molecular sciences, 2021-07, Vol.22 (13), p.6723

2021

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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.208-215

2018

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Differential efficacy with epidural blood and fibrin patches for the treatment of post-dural puncture headache

Pain practice, 2024-03, Vol.24 (3), p.440-448

2024

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

PloS one, 2018-06, Vol.13 (6), p.e0199048

2018

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Retinitis pigmentosa and allied conditions today: a paradigm of translational research

Genome medicine, 2010-05, Vol.2 (5), p.34-34

2010

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Human mutation, 2011-06, Vol.32 (6), p.610-619

2011

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

JAMA ophthalmology, 2015-02, Vol.133 (2), p.157

2015

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

Scientific reports, 2022-01, Vol.12 (1), p.68-68, Article 68

2022

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Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies

The Journal of molecular diagnostics : JMD, 2020-04, Vol.22 (4), p.532-543

2020

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A genetic basis for mechanosensory traits in humans

PLoS biology, 2012-05, Vol.10 (5), p.e1001318-e1001318

2012

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Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Frontiers in genetics, 2024-02, Vol.15, p.1352063-1352063

2024

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A novel gene for Usher syndrome type 2 : mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Human genetics, 2007-04, Vol.121 (2), p.203-211

2007

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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Human mutation, 2010-11, Vol.31 (11), p.E1772-E1800

2010

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Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1597-1600

2015

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Expanding the Genetic Landscape of Usher-Like Phenotypes

Investigative ophthalmology & visual science, 2019-11, Vol.60 (14), p.4701-4710

2019

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USH2A Gene Editing Using the CRISPR System

Molecular therapy. Nucleic acids, 2017-09, Vol.8, p.529-541

2017

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

International journal of molecular sciences, 2022-07, Vol.23 (15), p.8289

2022

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

Scientific reports, 2018-11, Vol.8 (1), p.17113-13, Article 17113

2018

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Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.168-168, Article 168

2014

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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Journal of medical genetics, 2010-07, Vol.47 (7), p.453-463

2010

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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

PloS one, 2018-12, Vol.13 (12), p.e0207296-e0207296

2018

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

Scientific reports, 2016-01, Vol.6 (1), p.19531-19531, Article 19531

2016

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

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

Usher Syndrome: Genetics of a Human Ciliopathy

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Differential efficacy with epidural blood and fibrin patches for the treatment of post-dural puncture headache

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

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

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

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

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

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies

A genetic basis for mechanosensory traits in humans

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

A novel gene for Usher syndrome type 2 : mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F

Expanding the Genetic Landscape of Usher-Like Phenotypes

USH2A Gene Editing Using the CRISPR System

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

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

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

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

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