Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus by Cristina Rodilla, Cristina Rodilla, Gonzalo Núñez-Moreno, Gonzalo Núñez-Moreno, Gonzalo Núñez-Moreno, Yolanda Benitez, Yolanda Benitez, Raquel Romero, Raquel Romero, Raquel Romero, Lidia Fernández-Caballero, Lidia Fernández-Caballero, Pablo Mínguez, Pablo Mínguez, Pablo Mínguez, Marta Corton, Marta Corton, Carmen Ayuso, Carmen Ayuso

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Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. by Marta Corton, Koji M Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D Tatu, Carmen Ayuso, Carlo Rivolta

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Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene by Arantxa Bolinches-Amorós, Dunja Lukovic, Ana Artero Castro, Marian León, Kunka Kamenarova, Radka Kaneva, Pavla Jendelova, Fiona Blanco-Kelly, Carmen Ayuso, Marta Cortón, Slaven Erceg

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Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia by María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton

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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. by Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton

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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases by Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton

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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies by Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Minguez, Carmen Ayuso

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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. by Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. by Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19 by Rosario López-Rodríguez, Marta Del Pozo-Valero, Marta Corton, Pablo Minguez, Javier Ruiz-Hornillos, María Elena Pérez-Tomás, María Barreda-Sánchez, Esther Mancebo, Cristina Villaverde, Gonzalo Núñez-Moreno, Raquel Romero, The STOP_Coronavirus Study Group, Estela Paz-Artal, Encarna Guillén-Navarro, Berta Almoguera, Carmen Ayuso

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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases by Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Inmaculada Martín-Mérida, Almudena Ávila-Fernández, Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Alejandra Damián, Cristina Rodilla, Berta Almoguera, Marta Cortón, Carmen Ayuso, Pablo Mínguez

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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. by Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome by Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso

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Diabetes‐mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunction by Laura Del Puerto‐Nevado, Aranzazu Santiago‐Hernandez, Sonia Solanes‐Casado, Nieves Gonzalez, Marta Ricote, Marta Corton, Isabel Prieto, Sebastian Mas, Ana Belen Sanz, Oscar Aguilera, Carmen Gomez‐Guerrero, Carmen Ayuso, Alberto Ortiz, Federico Rojo, Jesus Egido, Jesus Garcia‐Foncillas, Pablo Minguez, Gloria Alvarez‐Llamas, on behalf of the DiabetesCancerConnect Consortium

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Colon cancer modulation by a diabetic environment: A single institutional experience. by Isabel Prieto, Laura Del Puerto-Nevado, Nieves Gonzalez, Sergio Portal-Nuñez, Sandra Zazo, Marta Corton, Pablo Minguez, Carmen Gomez-Guerrero, Jose Miguel Arce, Ana Belen Sanz, Sebastian Mas, Oscar Aguilera, Gloria Alvarez-Llamas, Pedro Esbrit, Alberto Ortiz, Carmen Ayuso, Jesus Egido, Federico Rojo, Jesus Garcia-Foncillas, DiabetesCancerConnect Consortium

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Molecular evidence of field cancerization initiated by diabetes in colon cancer patients by Laura Del Puerto‐Nevado, Pablo Minguez, Marta Corton, Sonia Solanes‐Casado, Isabel Prieto, Sebastian Mas, Ana Belen Sanz, Paula Gonzalez‐Alonso, Cristina Villaverde, Sergio Portal‐Nuñez, Oscar Aguilera, Carmen Gomez‐Guerrero, Pedro Esbrit, Fernando Vivanco, Nieves Gonzalez, Carmen Ayuso, Alberto Ortiz, Federico Rojo, Jesus Egido, Gloria Alvarez‐Llamas, Jesus Garcia‐Foncillas, the DiabetesCancerConnect Consortium

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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. by Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

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SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes by Brenda Martínez-González, María Eugenia Soria, Lucía Vázquez-Sirvent, Cristina Ferrer-Orta, Rebeca Lobo-Vega, Pablo Mínguez, Lorena de la Fuente, Carlos Llorens, Beatriz Soriano, Ricardo Ramos, Marta Cortón, Rosario López-Rodríguez, Carlos García-Crespo, Isabel Gallego, Ana Isabel de Ávila, Jordi Gómez, Luis Enjuanes, Llanos Salar-Vidal, Jaime Esteban, Ricardo Fernandez-Roblas, Ignacio Gadea, Carmen Ayuso, Javier Ruíz-Hornillos, Nuria Verdaguer, Esteban Domingo, Celia Perales

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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa by Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso

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