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Carmen Ayuso

health research institute and fundacion jimenez diaz university hospital

68H-index
602Paper Count
1.8WCitation Count
Published Papers 220
Publication Date
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders
err2026-03-14
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errLucía López-López; Laura Lapeña-Gil; Yolanda Benítez; Caridad Serrano; Ana Isabel Sánchez-Barbero; Fiona Blanco-Kelly; Fermina López-Grondona; Saoud Tahsin-Swafiri; Isabel Lorda-Sánchez; Carmen Ayuso; Pablo Mínguez; Berta Almoguera
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Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy
err2026-03-12
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PREAI
errAna Isabel Sanchez Barbero; Marta Rodríguez de Alba Freiría; María Jose Trujillo-Tiebas; Almudena Ávila Fernández; Fiona Blanco-Kelly; Fermina López Grondona; Saoud Swafiri; Andreea-Manuela Mirea; Elena Salgado Barbado; Carolina Sánchez Jimeno; Miguel Álvaro Navidad; Javier Plaza; Carmen Ayuso; Isabel Lorda-Sánchez
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
err2026-01-09
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errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
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RetiGene, a comprehensive gene atlas for inherited retinal diseases
err2025-09-16
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errOAAI
errCarlo 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
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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy
err2025-06-28
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errAnneke 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
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Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
err2025-06-18
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errSilvia Giovanella; Antonio Miguel Poyatos-Andújar; Maria Mar Aguila Garcia; Almudena Avila-Fernandez; Ana Bustamante-Aragonés; Carmen Ayuso; Antonio Percesepe; Davide Martorana; Maria Ferri; Alessandra Terracciano; Laura Massella; Johanna Chester; Francesca Testa; Giulia Ligabue; Marco Ferrarini; Dino Gibertoni; Gaetano Alfano; Elena Tenedini; Lucia Artuso; Marco Marino; Olga Calabrese; Enrico Tagliafico; Riccardo Magistroni
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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
err2025-06-06
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errMichalis Georgiou; Kaoru Fujinami; Yu Fujinami-Yokokawa; Fadi Nasser; Michael J. Gale; Carmen Ayuso; Omar A. Mahroo; Nikolas Pontikos; Zaina Bouzia; Belen Jimenez-Rolando; Ester Carreño; Rigmor C. Baraas; Josephine P. Holtan; Ragnheidur Bragadottir; Alberta A.H.J. Thiadens; Monika G. Pechhacker; Ajoy Vincent; Elise Héon; Alaa Altalbishi; Ramiro S. Maldonado; Michel Michaelides
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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
err2025-04-30
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errMerepa, Solomon S.; Reis, Linda M.; Damian, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, Maria Jose; Ayuso, Carmen; Galarza, Laura Cortazar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A.; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancie, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V.; Ragge, Nicola K.
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Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB
err2025-04-28
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errFernandez-Caballero, Lidia; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Martin-Merida, Maria Inmaculada; Quinodoz, Mathieu; Ullah, Mukhtar; Carreno, Ester; Martin-Gutierrez, Maria Pilar; Garcia-Sandoval, Blanca; Minguez, Pablo; Rivolta, Carlo; Corton, Marta; Ayuso, Carmen
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Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies
err2025-04-18
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errOAAI
errRodilla, Cristina; Nunez-Moreno, Gonzalo; Benitez, Yolanda; de Alba, Marta Rodriguez; Blanco-Kelly, Fiona; Lopez-Alcojor, Aroa; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Del Pozo-Valero, Marta; Garcia-Garcia, Gema; Balanza, Mar; Villaverde, Cristina; Zurita, Olga; Jubin, Claire; Fund, Cedric; Delepine, Marc; Leduc, Aurelie; Deleuze, Jean-Francois; Millan, Jose M.; Minguez, Pablo; Corton, Marta; Ayuso, Carmen
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
err2025-04-01
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errKaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
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Diagnostic performance of contrast-enhanced US in small liver nodules not conclusively characterized after MRI in cirrhotic patients
err2025-03-07
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PREAI
errSaborido, Belen; Darnell, Anna; Forner, Alejandro; Garcia-Criado, Angeles; Diaz, Alba; Ayuso, Carmen; Vilana, Ramon; Bruix, Jordi; Reig, Maria; Rimola, Jordi
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Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients
err2025-02-21
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errSerra-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.
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Patient specific differences in retinitis pigmentosa in vitro model
err2025-01-19
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PREAI
errLukovic, D; Garcia-Bohórquez, B; Garcia, GG; Gallardo, ME; Ayuso, C; Millán, JM
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Subclinical atherosclerosis and brain health in midlife: Rationale and design of the PESA-Brain study
err2024-12-01
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errTristao-Pereira, Catarina; Fuster, Valentin; Lopez-Jimenez, Alejandro; Semerano, Aurora; Fernandez-Nueda, Irene; Garcia-Lunar, Ines; Ayuso, Carmen; Sanchez-Gonzalez, Javier; Ibanez, Borja; Gispert, Juan Domingo; Cortes-Canteli, Marta
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Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome
err2024-12-01
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errGarcia-Bohorquez, Belen; Barberan-Martinez, Pilar; Aller, Elena; Jaijo, Teresa; Minguez, Pablo; Rodilla, Cristina; Fernandez-Caballero, Lidia; Blanco-Kelly, Fiona; Ayuso, Carmen; Sanchis-Juan, Alba; Broekman, Sanne; de Vrieze, Erik; van Wijk, Erwin; Garcia-Garcia, Gema; Millan, Jose M.
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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
err2024-09-01
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errOAAI
errMalka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha
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Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
err2024-06-17
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errTesta, Francesco; Carreno, Ester; van den Born, L. Ingeborgh; Melillo, Paolo; Perea-Romero, Irene; Di Iorio, Valentina; Risca, Giulia; Iodice, Clemente Maria; Pennings, Ronald J. E.; Karali, Marianthi; Banfi, Sandro; Auricchio, Alberto; Galimberti, Stefania; Ayuso, Carmen; Simonelli, Francesca
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Clinical and Genetic Analysis of Patients With TK2 Deficiency
err2024-04-01
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errCeballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blazquez, Alberto; Quesada-Espinosa, Juan F.; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; Garcia-Arumi, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galan-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquin; Carracedo, Angel; Marti, Ramon; Martin, Miguel A.; Dominguez-Gonzalez, Cristina
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