Gonzalo Núñez-Moreno - Fdn Jimenez Diaz Univ Hosp, Univ Autonoma Madrid IIS FJD

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论文共 20 篇作者统计合作学者相似作者

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Cas9-targeted-based Long-Read Sequencing for Genetic Screening of RPE65 Locus

Cristina Rodilla,Gonzalo Núñez-Moreno, Yolanda Benitez,Raquel Romero, Lidia Fernández-Caballero, Pablo Mínguez, Marta Corton,Carmen Ayuso

Frontiers in genetics (2024): 1439153-1439153

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Lidia Fernandez-Caballero, Inmaculada Martin Merida,Fiona Blanco-Kelly,Maria Jose Trujillo Tiebas,Almudena Avila Fernandez,Marta del Pozo Valero, Irene Perea-Romero,Saoud Tahsin-Swafiri,Fermina Lopez-Grondona,Ana Isabel Sanchez Barbero,Olga Zurita,Gonzalo Nunez Moreno,Pablo Minguez,Blanca Garcia Sandoval,Marta Corton,Carmen Ayuso

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 117-117

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Minigenes and Long Read Sequencing for the Analysis of Splicing Variants Located in Acceptor Sites of the PAX6 Gene

Carolina Ruiz-Sanchez,Alejandra Tamayo,Gonzalo Nunez Moreno,Cristina Rodilla,Carmen Ayuso,Pablo Minguez,Marta Corton

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 122-123

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Genomic Landscape of 311 Patients with Ocular Developmental Diseases in Spain Based on NGS Data

Alejandra Damian,Maria Jose Trujillo Tiebas,Fiona Blanco-Kelly,Cristina Villaverde,Raquel Romero,Gonzalo Nunez Moreno,Lorena De la Fuente Lorente,Alejandra Tamayo,Carolina Ruiz-Sanchez,Almudena Avila Fernandez,Berta Almoguera Castillo,Saoud Tahsin-Swafiri,Isabel Lorda,Ana Isabel Sanchez Barbero,Pablo Minguez,Carmen Ayuso,Marta Corton

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 381-381

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Long-read Sequencing for Improving the Characterization of Rare Inherited Eye Diseases

Cristina Rodilla,Alejandra Damian,Gonzalo Nunez Moreno,Irene Perea-Romero,Marta del Pozo-Valero,Lidia Fernandez-Caballero,Marta Rodriguez de Alba,Inmaculada Martin Merida,Almudena Avila Fernandez,Gema Garcia-Garcia,Belen Garcia-Bohorquez, Pilar Barberan-Martinez,Marc Delepine,Claire Jubin, Cedric Fund,Aurelie Leduc,Jean-Francois Deleuze,Pablo Minguez,Jose Maria Millan,Marta Corton,Carmen Ayuso

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 119-119

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Cryptic chromosomal rearrangements disrupting the PAX6 locus identified in aniridia cases based on long-read whole-genome sequencing

Alejandra Damian,Gonzalo Nunez Moreno,Claire Jubin,Alejandra Tamayo,Marta Rodriguez de Alba,Jean-Francois Deleuze,Pablo Minguez,Carmen Ayuso,Marta Corton

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 372-372

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Biallelic Intragenic Tandem Duplication of CPLANE1 in Joubert Syndrome: A Case Report

Francisco Martinez-Granero,Elena Martinez-Cayuelas,Cristina Rodilla,Gonzalo Nunez Moreno,Marta Rodriguez de Alba,Fiona Blanco-Kelly,Raquel Romero,Pablo Minguez,Carmen Ayuso,Isabel Lorda,Marta Corton,Berta Almoguera Castillo

Clinical Genetics（2023）

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VIsoQLR: an Interactive Tool for the Detection, Quantification and Fine-Tuning of Isoforms in Selected Genes Using Long-Read Sequencing

Gonzalo Núñez-Moreno,Alejandra Tamayo,Carolina Ruiz-Sánchez,Marta Cortón,Pablo Mínguez

Human Geneticsno. 4 (2023): 495-506

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Presence of rare potential pathogenic variants in subjects under 60 years old with very severe or fatal COVID-19

Rosario Lopez-Rodriguez,Marta del Pozo-Valero,Marta Corton,Pablo Minguez,Javier Ruiz-Hornillos,Maria Elena Perez-Tomas,Maria Barreda-Sanchez,Esther Mancebo,Cristina Villaverde,Gonzalo Nunez Moreno,Raquel Romero,Estela Paz-Artal,Encarna Guillen-Navarro, Berta Almoguera Castillo,Carmen Ayuso

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 343-343

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