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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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Usher Syndrome: Genetics of a Human Ciliopathy

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

2021

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Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation

Neurological sciences, 2021-09, Vol.42 (9), p.3647-3654

2021

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Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa

PloS one, 2013-09, Vol.8 (9), p.e74223

2013

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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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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

Frontiers in immunology, 2021-03, Vol.12, p.625591

2021

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Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

Diagnostics (Basel), 2022-01, Vol.12 (1), p.129

2022

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

Genes, 2020-12, Vol.11 (12), p.1467

2020

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An Update on the Genetics of Usher Syndrome

Journal of ophthalmology, 2011-01, Vol.2011, p.417217-8

2011

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Updating the Genetic Landscape of Inherited Retinal Dystrophies

Frontiers in cell and developmental biology, 2021-07, Vol.9, p.645600-645600

2021

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Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis

Journal of personalized medicine, 2022-07, Vol.12 (7), p.1111

2022

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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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Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

Frontiers in molecular neuroscience, 2021-08, Vol.14, p.721047-721047

2021

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Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

Genes, 2021-02, Vol.12 (2), p.282

2021

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Genetic Screening of the Usher Syndrome in Cuba

Frontiers in genetics, 2019-05, Vol.10, p.501-501

2019

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

Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.65-65, Article 65

2011

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Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells

PloS one, 2013-02, Vol.8 (2), p.e57506-e57506

2013

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The USH2A c.2299delG mutation: dating its common origin in a Southern European population

European journal of human genetics : EJHG, 2010-07, Vol.18 (7), p.788-793

2010

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STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib

Journal of clinical immunology, 2023-07, Vol.43 (5), p.898-901

2023

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STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Movement disorders, 2024-07

2024

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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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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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Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations

Journal of the neurological sciences, 2021-10, Vol.429, p.118062-118062, Article 118062

2021

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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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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

Usher Syndrome: Genetics of a Human Ciliopathy

Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation

Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa

USH2A Gene Editing Using the CRISPR System

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

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

An Update on the Genetics of Usher Syndrome

Updating the Genetic Landscape of Inherited Retinal Dystrophies

Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis

A genetic basis for mechanosensory traits in humans

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

Genetic Screening of the Usher Syndrome in Cuba

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

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies

Expanding the Genetic Landscape of Usher-Like Phenotypes

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations

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

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

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