Marta Cortón

universidad autónoma de madrid (iis-fjd

H指数:39

被引数:5,000

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RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene，一种全面的遗传性视网膜疾病基因图谱

american journal of human genetics

IF0

2025-09-160

OAAI

Carlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz

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

POC5基因的双等位基因失活突变可导致综合征性视网膜、内分泌和神经肌肉性纤毛病

Genetics in Medicine

IF6.2

2025-06-280

OAAI

Anneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. Oud

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

GJA8相关发育性眼病：一项新的多中心研究强调了突变热点和基因型-表型相关性

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-04-300

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

与THRB相关的常染色体显性黄斑变性的新家系和变异体的鉴定

SCIENTIFIC REPORTS

IF3.9

2025-04-280

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

长读长全基因组测序作为检测遗传性视网膜变性的变异工具

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

IF4.9

2025-04-180

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations

先天性无虹膜的综合分析与鉴别诊断：遗传学见解与临床表现

OPHTHALMOLOGY AND THERAPY

IF3.2

2025-03-261

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

BIOMEDICINES

IF3.9

2025-02-210

OAAI

Serra-Llovich, Alexandre; Cullell, Natalia; Maronas, Olalla; Jose Herrero, Maria; Cruz, Raquel; Almoguera, Berta; Ayuso, Carmen; Lopez-Rodriguez, Rosario; Dominguez-Garrido, Elena; Ortiz-Lopez, Rocio; Barreda-Sanchez, Maria; Corton, Marta; Dalmau, David; Calbo, Esther; Boix-Palop, Lucia; Dietl, Beatriz; Sangil, Anna; Gil-Rodriguez, Almudena; Guillen-Navarro, Encarna; Mancebo, Esther; Lira-Albarran, Saul; Minguez, Pablo; Paz-Artal, Estela; Olivera, Gladys G.; Recarey-Rama, Sheila; Sendra, Luis; Zucchet, Enrique G.; Lopez de Heredia, Miguel; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Arranz, Maria J.

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

COMMUNICATIONS BIOLOGY

IF5.1

2024-02-1986

OAAI

Perez-Jurado, Luis A.; Caceres, Alejandro; Balague-Dobon, Laura; Esko, Tonu; de Heredia, Miguel Lopez; Quintela, Ines; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Angel; Abellan, Javier; Acosta-Isaac, Rene; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Ahmadi Sabbagh, Abdolah; Alba, Jorge; Albu, Sergiu; Alcala-Gallardo, Karla A. M.; Alcoba-Florez, Julia; Alcolea Batres, Sergio; Rafael Algarin-Lara, Holmes; Almadana, Virginia; Medeiros, Kelliane A.; Almeida, Julia; Almoguera, Berta; Alonso, Maria R.; Alvarez, Nuria; Alvarez-Sala Walther, Rodolfo; Alvarez-Benitez, Yady; Alvarez-Navia, Felipe; dos Santos, Katiusse A.; Andreu-Bernabeu, Alvaro; Rosa Antonijoan, Maria; Martinez-Aquino, Eleno; Arana-Arri, Eunate; Aranda, Carlos; Arango, Celso; Araque, Carolina; Araujo, Nathalia K.; Arcanjo, Ana C.; Arnaiz, Ana; Arnalich Fernandez, Francisco; Arranz, Maria J.; Arribas Lopez, Jose Ramon; Artiga, Maria-Jesus; Avello-Malaver, Yubelly; Ayuso, Carmen; Ballina Martin, Belen; Baptista-Rosas, Raul C.; Maria Baldion, Ana; Barranco-Diaz, Andrea; Barreda-Sanchez, Maria; Barrera-Penagos, Viviana; Belhassen-Garcia, Moncef; Bernal-Bello, David; Bernal, Enrique; Bezerra, Joao F.; Bezerra, Marcos A. C.; Blanca-Lopez, Natalia; Blancas, Rafael; Boix-Palop, Lucia; Borobia, Alberto; Bravo, Elsa; Brion, Maria; Brochado-Kith, Oscar; Brugada, Ramon; Bustos, Matilde; Cabello, Alfonso; Caceres, Alejandro; Caceres-Agra, Juan J.; Calbo, Esther; Calderon, Enrique J.; Camacho, Shirley; Ceballos, Francisco C.; Canadas, Yolanda; Carbonell, Cristina; Cardona-Huerta, Servando; Sanchez-Carpintero Abad, Maria; Carpio Segura, Carlos; Antonio Carrillo-Avila, Jose; Campos, Marcela C.; Casasnovas, Carlos; Castano, Luis; Castano, Carlos F.; Castelao, Jose E.; Castellano Candalija, Aranzazu; Castillo, Maria A.; Chaves-Santiago, Walter G.; Chiquillo-Gomez, Sylena; Cid-Lopez, Marco A.; Cienfuegos-Jimenez, Oscar; Conde-Vicente, Rosa; Cunha, Gabriela C. R.; Lourdes Cordero-Lorenzana, M.; Corella, Dolores; Corrales, Almudena; Cortes-Sanchez, Jose L.; Corton, Marta; Souza, Karla S. C.; Silva, Fabiola T. C.; Cruz, Raquel; Cuesta, Luisa; Tavares, Nathali A. C.; Carvalho, Maria C. C.; Dalmau, David; Dantas-Komatsu, Raquel C. S.; Teresa Darnaude, M.; de Andres, Raimundo; de Juan, Carmen; de la Cruz Troca, Juan J.; de la Horra, Carmen; de la Hoz, Ana B.; De Martino-Rodriguez, Alba; Cruz, Marina S.; de Sousa Alves Neri, Julianna Lys; del Campo-Perez, Victor; Delgado-Cuesta, Juan; Diaz de Bustamante, Aranzazu; Diaz-Perez, Anderson; Dietl, Beatriz; Diz-de Almeida, Silvia; Alves, Manoella do Monte; Dominguez-Garrido, Elena; Rosa, Lidia S.; Luchessi, Andre D.; Echave-Sustaeta, Jose; Eiros, Rocio; Enciso-Olivera, Cesar O.; Escudero, Gabriela; Pablo Espana, Pedro; Estigarribia Sanabria, Gladys; Carmen Farinas, Maria; Fernandez, Ramon; Fernandez-Caballero, Lidia; Fernandez-Cruz, Ana; Fernandez-Ferrero, Silvia; Fernandez Martinez, Yolanda; Fernandez-Nestosa, Maria J.; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Sampedro, Marta; Fernandez, Ruth; Fernandez-Villa, Tania; Fernandez-Capitan, Carmen; Carioca, Antonio Augusto F.; Flores-Perez, Patricia; Fuenmayor-Hernandez, Lacides; Fuertes-Nunez, Marta; Fumado, Victoria; Gadea, Ignacio; Gagliardi, Lidia; Gago-Dominguez, Manuela; Gallego, Natalia; Galoppo, Cristina; Garcia-Soidan, Ana; Garcia-Cerrada, Carlos; Garcia-de-Vicuna, Aitor; Garcia-Garcia, Josefina; Garcia-Garcia, Irene; Garcia-Ibarbia, Carmen; Garcia-Montero, Andres C.; Garcia, Leticia; Garcia, Mercedes; Garcia Torrejon, Maria Carmen; Garcia, Ines; Garcia-Vazquez, Elisa; Garza-Frias, Emiliano; Gentile, Angela; Gil-Fournier, Belen; de Araujo, Jessica N. G.; Gomez-Duque, Mario; Gomez-Arrue, Javier; Gomez Carrera, Luis; Gomez Garcia, Maria; Gomez Sacristan, Angela; Gonzalez, Juan R.; Gonzalez-Neira, Anna; Gonzalez Alvarez, Beatriz; Bernaldo de Quiros, Fernan Gonzalez; Gonzalez-Montelongo, Rafaela; Gonzalez-Penas, Javier; Gonzalez-Sagrado, Manuel; Gonzalo-Benito, Hugo; Gorgojo-Galindo, Oscar; Gorgolas, Miguel; Guaragna, Florencia; Chaux, Jessica G.; Guillen-Navarro, Encarna; Guillen-Guio, Beatriz; Guisado-Vasco, Pablo; Gutierrez-Castaneda, Luz D.; Gutierrez-Bautista, Juan F.; Heili-Frades, Sara; Jacomo, Rafael H.; Hernandez, Estefania; Hernandez-Moro, Cristina; Hernandez-Ortega, Luis D.; Hernandez-Perez, Guillermo; Hernandez-Vaquero, Rebeca; Herraez, Belen; Teresa Herranz, M.; Herrera, Maria; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Horcajada, Juan P.; Imaz-Ayo, Natale; Intxausti-Urrutibeaskoa, Maider; Inigo-Campos, Antonio; Iniguez, Maria; Jara, Ruben; Jimenez, Angel; Jimenez-Alfaro, Ignacio; Jimenez, Pilar; Jimenez-Sousa, Maria A.; Jordan, Iolanda; Laguna-Goya, Rocio; Laorden, Daniel; Lasa-Lazaro, Maria; Claudia Lattig, Maria; Lauriente, Ailen; Liger Borja, Anabel; Llanos, Lucia; Lopez-Bernus, Amparo; Lopez de Heredia, Miguel; Lopez-Garcia, Esther; Lopez-Granados, Eduardo; Lopez-Rodriguez, Rosario; Lopez-Ruz, Miguel A.; Lorente, Leonardo; Lorenzo-Salazar, Josem.; Lozano, Jose E.; Lozano-Espinosa, Maria; Mahillo, Ignacio; Mancebo, Esther; Mar, Carmen; Marcelo Calvo, Cristina; Marcos-Delgado, Alba; Marcos, Miguel; Marin-Candon, Alicia; Mariscal-Aguilar, Pablo; Martin-Pedraza, Laura; Martin-Fernandez, Marta; Martin-Lopez, Caridad; Martin-Oterino, Jose-Angel; Dolores Martin, Maria; Martin, Vicente; Martin, Maria M.; Martin-Vicente, Maria; Martinez, Amalia; Martinez-Gonzalez, Oscar; Martinez, Ricardo; Martinez-Paz, Pedro; Diaz-Caneja, Covadonga M.; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez, Silvia; Jose Martinez, Juan; Martinez-Perez, Angel; Martinez-Ramas, Andrea; Martinez-Robles, Violeta; Marzal, Laura; Mazzeu, Juliana F.; Medrano, Francisco J.; Meijome, Xose M.; Mejuto-Montero, Natalia; Mendes, Ingrid; Duarte, Alice L.; Mendez-Echevarria, Ana; Mendoza Charris, Humberto; Merayo Macias, Eleuterio; Mercadillo, Fatima; Mercado-Sesma, Arieh R.; Minguez, Pablo; Molina-Roldan, Elena; Molina, AntonioJ. J.; Jose Montoya, Juan; Pinho, Susana M. T.; Moreira-Escriche, Patricia; Morelos-Arnedo, Xenia; Moreno, Rocio; Moreno Cuerda, Victor; Moreno-Docon, Antonio; Moreno-Escalante, Junior; Moreno Fernandez, Alberto; Munoz Garcia, Patricia; Neira, Pablo; Nevado, Julian; Nieto-Ganan, Israel; Silbiger, Vivian N.; Nunez-Torres, Rocio; Obrador-Hevia, Antonia; Gonzalo Ocejo-Vinyals, J.; Olivar, Virginia; Oliveira, Silviene F.; Ondo, Lorena; Orfao, Alberto; Ortega-Paino, Eva; Ortega, Luis; Ortiz-Lopez, Rocio; Ortiz-Flores, Fernando; Oteo, Jose A.; Pacheco, Manuel; Javier Pacheco-Miranda, Fredy; Padilla-Conejo, Irene; Panadero-Fajardo, Sonia; Parellada, Mara; Pariente-Rodriguez, Roberto; Friaza, Vicente; Paz-Artal, Estela; Peces-Barba, German; Pedromingo Kus, Miguel S.; Perales, Celia; Santos, Ney P. C.; Guegel, Genilson P.; Jazmin Perez, Maria; Perez, Alexandra; Perez-Matute, Patricia; Perez, Cesar; Perez-de-Nanclares, Gustavo; Perez-Garcia, Felipe; Perez, Patricia; Perez-Jurado, Luis A.; Elena Perez-Tomas, M.; Perucho, Teresa; Pichardo, Lisbeth A.; Ribeiro, Adriana P.; Pinsach-Abuin, Mel lina; Adriana Pinzon, Luz; Medeiros, Jeane F. P.; Pita, Guillermo; Pla-Junca, Francesc; Planas-Serra, Laura; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Eugenia Quevedo-Chavez, Maria; Angeles Quijada, Maria; Quintela, Ines; Ramiro-Leon, Soraya; Rascado Sedes, Pedro; Nunes, Joana F. R.; Recalde, Delia; Recio-Fernandez, Emma; Resino, Salvador; Sousa, Renata R.; Rivadeneira-Chamorro, Carlos S.; Roa-Agudelo, Diana; Robelo Pardo, Montserrat; Fernandes, Marianne R.; Rodriguez-Hernandez, Maria A.; Rodriguez-Palmero, Agusti; Rodriguez-Ruiz, Emilio; Johanna Rodriguez, Marilyn; Rodriguez-Artalejo, Fernando; Rodriguez-Ferrer, Marena; Rodriguez-Gallego, Carlos; Rodriguez-Garcia, Jose A.; Rodriguez Maya, Belen; Rodriguez-Nicolas, Antonio; Ezequiel Rodriguez-Novoa, German; Rodriguez-Urrego, Paula A.; Rojo, Federico; Romero-Coronado, Andrea; Morilla, Ruben; Rondon-Garcia, Filomeno; Rosales-Castillo, Antonio; Rubio, Cladelis; Rubio Olivera, Maria; Ruiz-Cabello, Francisco; Ruiz-Casares, Eva; Ruiz-Cubillan, Juan J.; Ruiz-Hornillos, Javier; Ruiz, Montserrat; Ryan, Pablo; Salamanca, Hector D.; Salazar-Garcia, Lorena; Gabriela Salgueiro-Origlia, Giorgina; Sangil, Anna; Sanchez-Pernaute, Olga; Sanchez, Pedro-Luis; Sanchez Lopez, Antonio J.; Sanchez-Pablo, Clara; Concepcion Sanchez-Prados, Maria; Sanchez-Real, Javier; Sanchez-Redondo, Jorge; Sancho-Sainz, Cristina; Sande, Esther; Santos, Arnoldo; Schluter, Agatha; Segovia, Sonia; Serra-Llovich, Alex; Sevil-Puras, Fernando; Sevilla-Porras, Marta; Sicolo, Miguel A.; Silvan-Fuentes, Cristina; Moraes, Vitor M. S.; Souza, Vanessa S.; Sole-Violan, Jordi; Manuel Soria, Jose; Sorli, Jose V.; Silva, Nayara S.; Carlos Souto, Juan; Sprockel, John J.; Javier Suarez-Rama, Jose; Suarez-Zamora, David A.; Taboada-Fraga, Xiana; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Vasconcelos, Romero H. T.; Telleria, Carlos; Carratto, Thassia M. T.; Antonio Tenorio-Castano, Jair; Teper, Alejandro; Araujo, Izabel M. T.; Torres-Macho, Juan; Torres-Tobar, Lilian; Torres-Gutierrez, Ronald P.; Troya, Jesus; Urioste, Miguel; Valencia-Ramos, Juan; Valido, Agustin; Pablo Vargas-Gallo, Juan; Varon, Belen; Vega, Tomas; Velasco-Quirce, Santiago; Velez-Santamaria, Valentina; Victor, Virginia; Vidan-Estevez, Julia; Silva, Gabriela V.; Vieitez-Santiago, Miriam; Vilches, Carlos; Villalobos, Lavinia; Villar, Felipe; Villar-Garcia, Judit; Villaverde, Cristina; Villoslada-Blanco, Pablo; Virseda-Berdices, Ana; Costa, Tatiana X.; Yanez, Zuleima; Zapatero-Gaviria, Antonio; Zarate, Ruth; Zazo, Sandra; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Gonzalez, Juan R.

The sub-basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy

ACTA OPHTHALMOLOGICA

IF2.8

2024-01-180

Genetic background of congenital aniridia

ACTA OPHTHALMOLOGICA

IF2.8

2024-01-180

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

JCI INSIGHT

IF6.1

2023-11-085

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

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2023-10-012

OAAI

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing (vol 142, pg 495, 2023)

HUMAN GENETICS

IF3.6

2023-07-040

OAAI

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

长读基因组测序可识别先天性无虹膜病例的隐性结构变异