Carmen Ayuso (C Ayuso)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 53

Top Venues

International journal of molecular sciences

Biomolecules

Genes

NPJ genomic medicine

Fundación Jiménez Díaz

Universidad Autónoma de Madrid (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Fundación Jiménez Díaz Dec 23 2009

Spain

Chief :: Clinical Genetics Department

Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Universidad Autonoma de Madrid, UAM Dec 01 2009

Spain

Head :: Research Area

Education History

Universidad Autónoma de Madrid - Jul 04 1985

Spain

PHD :: Medicine

Publications

Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Marta García-López, Lydia Jiménez-Vicente, Raquel González-Jabardo, Helena Dorado, Irene Gomez-Manjon, Miguel Angel Martin, Carmen Ayuso, Joaquín Arenas, María Esther Gallardo
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene. International journal of molecular sciences 25 (13) (2024)
Raquel Toribio-Fernández, Catarina Tristão-Pereira, Juan Carlos Silla-Castro, Sergio Callejas, Belén Oliva, Irene Fernandez-Nueda, Ines Garcia-Lunar, Cristina Perez-Herreras, José Marìa Ordovàs, Pilar Martin, Fiona Blanco-Kelly, Carmen Ayuso, Enrique Lara-Pezzi, Antonio Fernández-Ortiz, Ana Garcia-Alvarez, Ana Dopazo, Fatima Sánchez-Cabo, Francesco Lavarra, Marta Cortes-Canteli, Valentin Fuster
Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study. Circulation research 134 (4) (2024)
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Marta García-López, Lydia Jiménez-Vicente, Raquel González-Jabardo, Helena Dorado, Irene Gomez-Manjon, Miguel Angel Martin, Carmen Ayuso, Joaquín Arenas, María Esther Gallardo
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene. International journal of molecular sciences 25 (13) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Raquel Toribio-Fernández, Catarina Tristão-Pereira, Juan Carlos Silla-Castro, Sergio Callejas, Belén Oliva, Irene Fernandez-Nueda, Ines Garcia-Lunar, Cristina Perez-Herreras, José Marìa Ordovàs, Pilar Martin, Fiona Blanco-Kelly, Carmen Ayuso, Enrique Lara-Pezzi, Antonio Fernández-Ortiz, Ana Garcia-Alvarez, Ana Dopazo, Fatima Sánchez-Cabo, Francesco Lavarra, Marta Cortes-Canteli, Valentin Fuster
Apolipoprotein E -ε2 and Resistance to Atherosclerosis in Midlife-The PESA Observational Study. Circulation research (2024)
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Francisco C Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, Alberto Blázquez, Juan F Quesada-Espinosa, Jorge Amigo, Pablo Minguez, Carmen Ayuso, Elena García-Arumí, Nuria Muelas, Teresa Jaijo, Andres Nascimento, Beatriz Galán-Rodriguez, Carmen Paradas, Joaquín Arenas, Angel Carracedo, Ramon Ramon, Miguel Angel Martin, Cristina Domínguez-González, null null
Clinical and Genetic Analysis of Patients With TK2 Deficiency. Neurology. Genetics 10 (2) (2024)
Raquel Toribio-Fernández, Catarina Tristão-Pereira, Juan Carlos Silla-Castro, Sergio Callejas, Belén Oliva, Irene Fernandez-Nueda, Ines Garcia-Lunar, Cristina Perez-Herreras, José Marìa Ordovàs, Pilar Martin, Fiona Blanco-Kelly, Carmen Ayuso, Enrique Lara-Pezzi, Antonio Fernández-Ortiz, Ana Garcia-Alvarez, Ana Dopazo, Fatima Sánchez-Cabo, Francesco Lavarra, Marta Cortes-Canteli, Valentin Fuster
Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study. Circulation research 134 (4) (2024)
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Francisco C Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, Alberto Blázquez, Juan F Quesada-Espinosa, Jorge Amigo, Pablo Minguez, Carmen Ayuso, Elena García-Arumí, Nuria Muelas, Teresa Jaijo, Andres Nascimento, Beatriz Galán-Rodriguez, Carmen Paradas, Joaquín Arenas, Angel Carracedo, Ramon Ramon, Miguel Angel Martin, Cristina Domínguez-González, null null
Clinical and Genetic Analysis of Patients With TK2 Deficiency. Neurology. Genetics 10 (2) (2024)
Marta García-López, Lydia Jiménez-Vicente, Raquel González-Jabardo, Helena Dorado, Irene Gomez-Manjon, Miguel Angel Martin, Carmen Ayuso, Joaquín Arenas, María Esther Gallardo
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene. International journal of molecular sciences 25 (13) (2024)
Raquel Toribio-Fernández, Catarina Tristão-Pereira, Juan Carlos Silla-Castro, Sergio Callejas, Belén Oliva, Irene Fernandez-Nueda, Ines Garcia-Lunar, Cristina Perez-Herreras, José Marìa Ordovàs, Pilar Martin, Fiona Blanco-Kelly, Carmen Ayuso, Enrique Lara-Pezzi, Antonio Fernández-Ortiz, Ana Garcia-Alvarez, Ana Dopazo, Fatima Sánchez-Cabo, Francesco Lavarra, Marta Cortes-Canteli, Valentin Fuster
Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife: The PESA Observational Study. Circulation research 134 (4) (2024)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damián-Verde, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Mínguez, Marta Corton
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences 24 (2) (2023)
Yesim Kesim, Fabiola Ceroni, Alejandra Damián-Verde, Fiona Blanco-Kelly, Carmen Ayuso, Kathy Williamson, Véronique Paquis-Flucklinger, Dorine A Bax, Julie Plaisancié, Claudine Rieubland, Mostafa Chamlal, Marta Cortón, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics : EJHG (2023)
Patricia Pascual, Jair Antonio Tenorio Castaño, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, Maria Palomares-Bralo, Emi Rikeros, Feliciano J Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D'Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The Sogri Consortium, Julián Nevado, Pablo Lapunzina
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes 14 (9) (2023)
Yesim Kesim, Fabiola Ceroni, Alejandra Damián-Verde, Fiona Blanco-Kelly, Carmen Ayuso, Kathy Williamson, Véronique Paquis-Flucklinger, Dorine A Bax, Julie Plaisancié, Claudine Rieubland, Mostafa Chamlal, Marta Cortón, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics : EJHG (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damián-Verde, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Mínguez, Marta Corton
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences 24 (2) (2023)
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damián-Verde, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Mínguez, Marta Corton
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences 24 (2) (2023)
Yesim Kesim, Fabiola Ceroni, Alejandra Damián-Verde, Fiona Blanco-Kelly, Carmen Ayuso, Kathy Williamson, Véronique Paquis-Flucklinger, Dorine A Bax, Julie Plaisancié, Claudine Rieubland, Mostafa Chamlal, Marta Cortón, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics : EJHG (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damián-Verde, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Mínguez, Marta Corton
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences 24 (2) (2023)
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damián-Verde, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Mínguez, Marta Corton
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences 24 (2) (2023)
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damián-Verde, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Mínguez, Marta Corton
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences 24 (2) (2023)
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 Mínguez, Marta Corton, Diana Valverde, Carmen Ayuso
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome. NPJ genomic medicine 7 (1) (2022)
Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Ávila-Fernandez, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo-Valero, Alejandra Damián-Verde, Marta Cortón, Carmen Ayuso, Pablo Mínguez
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies. International journal of molecular sciences 23 (15) (2022)
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-Del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Federico Martínez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. Journal of medical genetics (2022)
Rosario López-Rodríguez, Javier Ruiz-Hornillos, Marta Cortón, Berta Almoguera, Pablo Minguez, María Elena Pérez-Tomás, María Barreda-Sánchez, Esther Mancebo, Lorena Ondo, Andrea Martínez-Ramas, Lidia Fernández-Caballero, Juan Carlos Taracido-Fernández, Antonio Herrero-González, Ignacio Mahillo, null null, Estela Paz-Artal, Encarna Guillén-Navarro, Carmen Ayuso
Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study. Andrology (2022)
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 Corton, Rosario López-Rodríguez, Carlos García-Crespo, Pilar Somovilla, Antoni Durán-Pastor, Isabel Gallego, Ana Isabel de Ávila, Soledad Delgado, Federico Morán, Cecilio Lopez-Galindez, Jordi Gómez, Luis Enjuanes, Llanos Salar-Vidal, Mario Esteban-Muñoz, Jaime Esteban Moreno, Ricardo Fernández-Roblas, Ignacio Gadea, Carmen Ayuso, Javier Ruíz-Hornillos, Nuria Verdaguer, Esteban Domingo, Celia Perales
SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations. Pathogens (Basel, Switzerland) 11 (6) (2022)
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
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. NPJ genomic medicine 7 (1) (2022)
María Eugenia Soria, Marta Corton, Brenda Martínez-González, Rebeca Lobo-Vega, Lucía Vázquez-Sirvent, Rosario López-Rodríguez, Berta Almoguera, Ignacio Mahillo, Pablo Mínguez, Antonio Herrero, Juan Carlos Taracido, Alicia Macías-Valcayo, Jaime Esteban Moreno, Ricardo Fernandez-Roblas, Ignacio Gadea, Javier Ruíz-Hornillos, Carmen Ayuso, Celia Perales
High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease. Access microbiology 3 (9) (2021)
Ana Artero-Castro, Kathleen Long, Andrew R Bassett, Almudena Ávila-Fernandez, Marta Corton, Antonio Vidal-Puig, Daniel Horák, Francisco Javier Rodriguez-Jimenez, Eleonora Clemente, Carmen Ayuso, Slaven Erceg
Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells. International journal of molecular sciences 22 (4) (2021)
Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, Cristina Villaverde, Raquel Romero, Alejandra Tamayo, Blanca Gener, Patrick Calvas, Carmen Ayuso, Marta Corton
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. Journal of medical genetics (2021)
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders. NPJ genomic medicine 6 (1) (2021)
Lilián Galbis-Martínez, Fiona Blanco-Kelly, Gema García-García, Almudena Ávila-Fernández, Teresa Jaijo, Carla Fuster-García, Irene Perea-Romero, Olga Zurita-Muñoz, Belén Jimenez-Rolando, Ester Carreño, Blanca García-Sandoval, José María Millán, Carmen Ayuso
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta ophthalmologica 99 (8) (2021)
Alejandra Damián-Verde, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Corton
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts. International journal of molecular sciences 22 (23) (2021)
Irene Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, I Lorda-Sanchez, S Tahsin-Swafiri, A Avila-Fernandez, I Martin-Merida, M J Trujillo-Tiebas, R Lopez-Rodriguez, M Rodriguez de Alba, I F Iancu, R Romero, M Quinodoz, H Hakonarson, Blanca Garcia-Sandova, P Minguez, M Corton, C Rivolta, Carmen Ayuso
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. Human genetics 140 (12) (2021)
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Victor Martínez-González, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Maria Irene Valenzuela Palafoll, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J Kaiser, Luis Alberto Pérez-Jurado, Angel Carracedo, null The ENoD-Ciberer Consortium, null The Side Consortium, Pablo Lapunzina
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes 12 (5) (2021)
Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, María Rodrigo-Moreno, Elena Martinez-Cayuelas, Rosa Riveiro-Alvarez, María Fenollar-Cortés, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation. Genes 12 (9) (2021)
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José María Millán, Carmen Ayuso, Diana Valverde
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes 12 (2) (2021)
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 Mínguez, Carmen Ayuso
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. NPJ genomic medicine 6 (1) (2021)
Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K Verbakel, Panagiotis I Sergouniotis, Guylène Le Meur, Claire-Marie Dhaenens, Hélène Naacke, Almudena Avila-Fernández, Carel B Hoyng, Jeroen Klevering, Béatrice Bocquet, Agathe Roubertie, Audrey Sénéchal, Sandro Banfi, Agnès Muller, Christian L Hamel, Graeme C Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gaël Manes
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. Journal of medical genetics 58 (8) (2020)
Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, Stéphanie S Cornelis, Carmen Ayuso, Frans P M Cremers, Susanne Roosing, null The Abca Study Group
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. Human mutation 40 (12) (2019)
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
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. PloS one 13 (6) (2018)
Clara I Gomez-Sanchez, Juan J Carballo, Rosa Riveiro-Alvarez, Victor Soto-Insuga, Maria Rodrigo, Ignacio Mahillo-Fernandez, Francisco Abad-Santos, Rafael Dal-Ré, Carmen Ayuso
Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects. Scientific reports 7 (1) (2017)

Carmen Ayuso.css-eqlu8i{font-size:small;padding-left:4px;} (C Ayuso)

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Carmen Ayuso (C Ayuso)