Profil bibliographique

Lidia Fernández‐Caballero

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

30Publications signalées

451Citations signalées

5Affiliations récentes

Institutions déclarées

Instituto de Salud Carlos III Centre for Biomedical Network Research on Rare Diseases Hospital Universitario Fundación Jiménez Díaz Instituto de Investigación Sanitaria Fundación Jiménez Díaz Universidad Autónoma de Madrid

Domaines associés

Retinal Development and DisordersGenomics and Rare DiseasesRetinal Diseases and TreatmentsRNA regulation and diseaseGenomics and Phylogenetic Studies

Publications récentes

Accès ouvert 2026 preprintOpenAlex

A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa

Salome Spaag, Wen-Hsuan Wu, Justin Yun, Aykut Demirkol et autres

0 citationsbioRxiv (Cold Spring Harbor Laboratory)

Accès ouvert 2026 preprintOpenAlex

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patients

Graciela Uría-Regojo, Lidia Fernández‐Caballero, Aroa López-Alcojor, Lucía López-López et autres

0 citationsmedRxiv

2026 preprintOpenAlex

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

Zoeline Mars, Andrea Zanetti, Karolina Kamińska, Takero Miyagawa et autres

1 citationmedRxiv

Accès ouvert 2026 articleOpenAlex

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres

14 citationsNature Genetics

Accès ouvert 2025 preprintOpenAlex

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

Marta Sevilla-Porras, Esther Nieto-Molina, Zahara Medina, Alejandra Damián et autres

1 citationmedRxiv

Accès ouvert 2025 articleOpenAlex

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Carlo Rivolta, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri et autres

34 citationsThe American Journal of Human Genetics

Accès ouvert 2025 articleOpenAlex

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Anneke T. Vulto‐van Silfhout, Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas et autres

2 citationsGenetics in Medicine

Accès ouvert 2025 preprintOpenAlex

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri et autres

2 citationsbioRxiv (Cold Spring Harbor Laboratory)

Accès ouvert 2025 articleOpenAlex

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

Lidia Fernández‐Caballero, Fiona Blanco‐Kelly, Saoud Tahsin Swafiri, María Inmaculada Martín-Mérida et autres

3 citationsScientific Reports

Accès ouvert 2025 articleOpenAlex

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies

Cristina Rodilla, Gonzalo Núñez‐Moreno, Yolanda Benítez, Marta Rodríguez de Alba et autres

1 citationInternational Journal of Molecular Sciences

Accès ouvert 2025 articleOpenAlex

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Karolina Kamińska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R. Moye et autres

4 citationsThe American Journal of Human Genetics

Accès ouvert 2025 articleOpenAlex

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

José Luis Cabrera-Alarcón, Raquel Cruz, Marina Rosa-Moreno, Ana Latorre et autres

1 citationCommunications Biology

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