Ayuso Garcia, Maria Del Carmen Tomasa mariac.ayuso@uam.es
Publications
- Articles 357
- Books 0
- Book chapters 3
- Conferences 10
- Working papers 2
- Technical reports 0
- Research projects 0
- Supervised theses 28
- Patent or software license 1
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
- García-López M
- Jiménez-Vicente L
- González-Jabardo R
- Dorado H
- Gómez-Manjón I
- Martín MÁ
- Ayuso C
- Arenas J
- Gallardo ME
International Journal Of Molecular Sciences - 1/7/2024
10.3390/ijms25137240 View at source
- ISSN 14220067
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
- Testa, 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
Investigative Ophthalmology & Visual Science - 1/6/2024
- ISSN 01460404
- iMarina
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Hitti-Malin RJ
- Panneman DM
- Corradi Z
- Boonen EGM
- Astuti G
- Dhaenens CM
- Stöhr H
- Weber BHF
- Sharon D
- Banin E
- Karali M
- Banfi S
- Ben-Yosef T
- Glavač D
- Farrar GJ
- Ayuso C
- Liskova P
- Dudakova L
- Vajter M
- Ołdak M
- Szaflik JP
- Matynia A
- Gorin MB
- Kämpjärvi K
- Bauwens M
- De Baere E
- Hoyng CB
- Li CHZ
- Klaver CCW
- Inglehearn CF
- Fujinami K
- Rivolta C
- Allikmets R
- Zernant J
- Lee W
- Podhajcer OL
- Fakin A
- Sajovic J
- AlTalbishi A
- Valeina S
- Taurina G
- Vincent AL
- Roberts L
- Ramesar R
- Sartor G
- Luppi E
- Downes SM
- van den Born LI
- McLaren TL
- De Roach JN
- Lamey TM
- Thompson JA
- Chen FK
- Tracewska AM
- Kamakari S
- Sallum JMF
- Bolz HJ
- Kayserili H
- Roosing S
- Cremers FPM
Biomolecules - 19/3/2024
- ISSN 2218273X
- iMarina
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
- Fernández-Caballero L
- Martín-Merida I
- Blanco-Kelly F
- Avila-Fernandez A
- Carreño E
- Fernandez-San Jose P
- Irigoyen C
- Jimenez-Rolando B
- Lopez-Grondona F
- Mahillo I
- Martin-Gutierrez MP
- Minguez P
- Perea-Romero I
- Del Pozo-Valero M
- Riveiro-Alvarez R
- Rodilla C
- Rodriguez-Peña L
- Sánchez-Barbero AI
- Swafiri ST
- Trujillo-Tiebas MJ
- Zurita O
- García-Sandoval B
- Corton M
- Ayuso C
International Journal Of Molecular Sciences - 2/3/2024
- ISSN 14220067
- iMarina
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
- Pérez-Jurado LA
- Cáceres A
- Balagué-Dobón L
- Esko T
- López de Heredia M
- Quintela I
- Cruz R
- Lapunzina P
- Carracedo Á
- González JR
- Abellán J
- Acosta-Isaac R
- Aguado JM
- Aguilar C
- Aguilera-Albesa S
- Ahmadi Sabbagh A
- Alba J
- Albu S
- Alcalá-Gallardo KAM
- Alcoba-Florez J
- Alcolea Batres S
- Algarin-Lara HR
- Almadana V
- Medeiros KA
- Almeida J
- Almoguera B
- Alonso MR
- Álvarez N
- Álvarez-Sala Walther R
- Álvarez-Benítez Y
- Álvarez-Navia F
- dos Santos KA
- Andreu-Bernabeu Á
- Antonijoan MR
- Martínez-Aquino E
- Arana-Arri E
- Aranda C
- Arango C
- Araque C
- Araujo NK
- Arcanjo AC
- Arnaiz A
- Arnalich Fernández F
- Arranz MJ
- Arribas López JR
- Artiga MJ
- Avello-Malaver Y
- Ayuso C
- Ballina Martín B
- Baptista-Rosas RC
- Baldion AM
- Barranco-Díaz A
- Barreda-Sánchez M
- Barrera-Penagos V
- Belhassen-Garcia M
- Bernal-Bello D
- Bernal E
- Bezerra JF
- Bezerra MAC
- Blanca-López N
- Blancas R
- Boix-Palop L
- Borobia A
- Bravo E
- Brion M
- Brochado-Kith Ó
- Brugada R
- Bustos M
- Cabello A
- Cáceres A
- Cáceres-Agra JJ
- Calbo E
- Calderón EJ
- Camacho S
- Ceballos FC
- Cañadas Y
- Carbonell C
- Cardona-Huerta S
- Sánchez-Carpintero Abad M
- Carpio Segura C
- Carrillo-Avila JA
- Campos MC
- Casasnovas C
- Castaño L
- Castaño CF
- Castelao JE
- Castellano Candalija A
- Castillo MA
- Chaves-Santiago WG
- Chiquillo-Gómez S
- Cid-López MA
- Cienfuegos-Jiménez Ó
- Conde-Vicente R
- Cunha GCR
- Cordero-Lorenzana ML
- Corella D
- Corrales A
- Cortés-Sánchez JL
- Corton M
- Souza KSC
Commun Biol - 1/12/2024
10.1038/s42003-024-05805-6 View at source
- ISSN 23993642
Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife-The PESA Observational Study
- Toribio-Fernández R
- Tristão-Pereira C
- Carlos Silla-Castro J
- Callejas S
- Oliva B
- Fernandez-Nueda I
- Garcia-Lunar I
- Perez-Herreras C
- María Ordovás J
- Martin P
- Blanco-Kelly F
- Ayuso C
- Lara-Pezzi E
- Fernandez-Ortiz A
- Garcia-Alvarez A
- Dopazo A
- Sanchez-Cabo F
- Ibanez B
- Cortes-Canteli M
- Fuster V
Circulation Research (p. 411-424) - 1/1/2024
- ISSN 00097330
- iMarina
Clinical and Genetic Analysis of Patients With TK2 Deficiency
- Ceballos F
- Serrano-Lorenzo P
- Bermejo-Guerrero L
- Blázquez A
- Quesada-Espinosa JF
- Amigo J
- Minguez P
- Ayuso C
- García-Arumí E
- Muelas N
- Jaijo T
- Nascimento A
- Galán-Rodriguez B
- Paradas C
- Arenas J
- Carracedo A
- Martí R
- Martín MA
- Domínguez-González C
- for TK2d Spanish-Group
Neurol Genet (p. e200138-e200138) - 1/1/2024
- ISSN 23767839
- iMarina
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
- Quinodoz M
- Kaminska K
- Cancellieri F
- Han JH
- Peter VG
- Celik E
- Janeschitz-Kriegl L
- Schärer N
- Hauenstein D
- György B
- Calzetti G
- Hahaut V
- Custódio S
- Sousa AC
- Wada Y
- Murakami Y
- Fernández AA
- Hernández CR
- Minguez P
- Ayuso C
- Nishiguchi KM
- Santos C
- Santos LC
- Tran VH
- Vaclavik V
- Scholl HPN
- Rivolta C
American Journal Of Human Genetics (p. 701-713) - 1/1/2024
- ISSN 00029297
- iMarina
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders
- Lorenzana-Blanco N
- Jimenez-Rolando B
- Garcia-Sandoval B
- Blanco-Kelly F
- Avila-Fernandez A
- Martin-Merida I
- Garcia-Ferreira M
- Campos-Seco S
- Ayuso C
- Carreño E
European Journal Of Ophthalmology (p. 735-744) - 1/3/2023
10.1177/11206721221138891 View at source
- ISSN 11206721
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
- Damián A, Núñez-Moreno G, Jubin C, Tamayo A, de Alba MR, Villaverde C, Fund C, Delépine M, Leduc A, Deleuze JF, Mínguez P, Ayuso C, Corton M
Human Genomics (p. 45-45) - 1/12/2023
- ISSN 14797364
- iMarina
This researcher has no books.
Molecular epidemiology of usher syndrome
- Millán J
- Aller E
- Jaijo T
- Blanco-Kelly F
- Corton M
- Ayuso C
Usher Syndrome: Pathogenesis, Diagnosis And Therapy (p. 13-30) - 1/12/2012
- ISSN 9781612092270
- iMarina
Conciencia y ciencia en la investigación. Desafíos éticos de la nueva medicina genómica
- Ayuso García, Carmen
Miguel Servet, Eterna Libertad: V Centenario De Su Nacimiento (1511-2011) (p. 61-75) - 1/1/2012
- iMarina
Assessing the potential of next-generation sequencing technologies to unravel the molecular spectrum of maculopathies
- del Pozo-Valero, Marta
- Riveiro-Alvarez, Rosa
- Martin-Merida, Inmaculada
- Blanco-Kelly, Fiona
- Swafiri, Saoud
- Lorda-Sanchez, Isabel
- Jose Trujillo-Tiebas, M.
- Carreno, Ester
- Jimenez-Rolando, Belen
- Garcia-Sandoval, Blanca
- Corton, Marta
- Avila-Fernandez, Almudena
- Ayuso, Carmen;
European Journal Of Human Genetics (p. 130-131) - 1/4/2022
- ISSN 10184813
- iMarina
Variants in FZD5 are primarily associated with non-syndromic phenotypes in individuals with ocular coloboma
- Holt, Richard J.
- Goudie, David
- Sarkar, Ajoy
- Damian, Alejandra
- Tamayo, Alejandra
- Ayuso, Carmen
- Corton, Marta
- Gardham, Alice
- Clowes, Virginia
- Plaisancie, Julie
- Chassaing, Nicolas
- Calvas, Patrick
- Ragge, Nicola K.;
European Journal Of Human Genetics (p. 124-124) - 1/4/2022
- ISSN 10184813
- iMarina
Clinical and genetic analysis of new cases provides further characterisation of ALDH1A3-related anophthalmia/microphthalmia
- Kesim, Yesim
- Ceroni, Fabiola
- Damian, Alejandra
- Blanco-Kelly, Fiona
- Ayuso, Carmen
- Williamson, Kathy
- Paquis, Veronique
- Bax, Dorine
- Rieubland, Claudine
- Mostafa, Chamlal
- Corton, Marta
- Chassaing, Nicolas
- Calvas, Patrick
- Ragge, Nicola;
European Journal Of Human Genetics (p. 118-119) - 1/4/2022
- ISSN 10184813
- iMarina
Emergency ethical and legal framework for genomic research during COVID-19 outbreak. Experience of three institutions from the Spanish National Health Service
- Ayuso, Carmen
- Ruiz Hornillos, Javier
- Llanos, Lucia
- Zazo, Sandra
- Fernandez-Caballero, Lidia
- Rojo, Federico
- Garcia-Molina, Esperanza
- Escamez, Teresa
- Guillen-Navarro, Encarna;
European Journal Of Human Genetics (p. 602-602) - 1/4/2022
- ISSN 10184813
- iMarina
Functional characterization of non-canonical splice variants in aniridia by minigenes and ex-vivo approaches
- Tamayo, Alejandra
- Tarilonte, Maria
- Moya, Jennifer
- Ramos, Patricia
- Swafiri, Saoud T.
- Blanco, Fiona
- Villaverde, Cristina
- Ayuso, Carmen
- Corton, Marta;
European Journal Of Human Genetics (p. 133-134) - 1/4/2022
- ISSN 10184813
- iMarina
Whole genome sequencing reveals the breakpoints disrupting the NHS gene on a balanced pericentric inversion in a patient with Nance-Horan syndrome
- Damian, Alejandra
- Ionescu, Raluca O.
- Rodriguez de Alba, Marta
- Tamayo, Alejandra
- Jose Trujillo, Maria
- Carmen Cotarelo, Maria
- Perez, Olga
- de la Fuente, Lorena
- Minguez, Pablo
- Villaverde, Cristina
- Ayuso, Carmen
- Corton, Marta;
European Journal Of Human Genetics (p. 353-353) - 1/4/2022
- ISSN 10184813
- iMarina
RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients
- Lopez-Rodriguez, Rosario
- Lantero, Esther
- Blanco-Kelly, Fiona
- Avila-Fernandez, Almudena
- Martin Merida, Inmaculada
- del Pozo-Valero, Marta
- Perea-Romero, Irene
- Zurita, Olga
- Jimenez-Rolando, Belen
- Tahsin Swafiri, Saoud
- Riveiro-Alvarez, Rosa
- Jose Trujillo-Tiebas, Maria
- Carreno Salas, Ester
- Garcia-Sandoval, Blanca
- Corton, Marta
- Ayuso, Carmen;
European Journal Of Human Genetics (p. 129-130) - 1/4/2022
- ISSN 10184813
- iMarina
Preserved outer retina in AIPL1 Leber's congenital amaurosis: Implications for gene therapy
- Aboshiha J
- Dubis AM
- Van Der Spuy J
- Nishiguchi KM
- Cheeseman EW
- Ayuso C
- Ehrenberg M
- Simonelli F
- Bainbridge JW
- Michaelides M
Ophthalmology (p. 862-864) - 1/4/2015
10.1016/j.ophtha.2014.11.019 View at source
- ISSN 01616420
Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing
- Bustamante-Aragones A
- Garcia-Hoyos M
- Rodriguez De Alba M
- Gonzalez-Gonzalez C
- Lorda-Sanchez I
- Diego-Alvarez D
- Trujillo-Tiebas M
- Ayuso C
- Ramos C
Annals Of The New York Academy Of Sciences (p. 108-117) - 1/1/2006
10.1196/annals.1368.014 View at source
- ISSN 00778923
Application of fetal DNA detection in maternal plasma: A prenatal diagnosis unit experience
- Diaz Recasens, Joaquin
- Gonzalez-Gonzalez, C
- Garcia-Hoyos, M
- Trujillo-Tiebas, MJ
- Lorda-Sanchez, I
- de Alba, MR
- Infantes, F
- Gallego, J
- Diaz-Recasens, J
- Ayuso, C
- Ramos, C
Journal Of Histochemistry & Cytochemistry (p. 307-314) - 1/3/2005
10.1369/jhc.4a6400.2005 View at source
- ISSN 00221554
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
- Martinez-Granero, Francisco
- Martinez-Cayuelas, Elena
- Rodilla, Cristina
- Nunez-Moreno, Gonzalo
- de Alba, Marta Rodriguez
- Blanco-Kelly, Fiona
- Romero, Raquel
- Minguez, Pablo
- Ayuso, Carmen
- Lorda-Sanchez, Isabel
- Corton, Marta
- Almoguera, Berta;
Clinical Genetics (p. 448-452) - 1/4/2023
10.1111/cge.14306 View at source
- ISSN 00099163
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts
- Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M
International Journal Of Molecular Sciences - 1/1/2021
10.3390/ijms222312713 View at source
- ISSN 14220067
This researcher has no technical reports.
This researcher has no research projects.
Desarrollo de métodos bioinformáticos para la priorización de variantes y genes en casos no resueltos de distrofias hereditarias de retina
- Carmen Ayuso García (Director)
- Pablo Mínguez Paniagua (Director) Doctorando: Ionut-Florin Iancu
18/7/2022
- iMarina
Enfermedades hereditarias de la retina sindrómicas: Aspectos clínicos y moleculares
- Carmen Ayuso García (Director) Doctorando: Irene Perea Romero
22/6/2022
- iMarina
Estudio clínico y molecular de las distrofias hereditarias de retina asociadas a ABCA4 y PROM1.
- Ayuso García, Carmen (Director)
- Sastre Garzon, Leandro (Tutor) Doctorando: Pozo Valero, Marta del
22/10/2020
- iMarina
Estudio molecular de la aniridia y otras malformaciones oculares congénitas: búsqueda de nuevos mecanismos genéticos
- AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
- Jimenez-Alfaro Morote, Ignacio (Autor o Coautor)
- Cortón Pérez, Marta (Director)
- Fernandez Piqueras, Jose (Tutor)
1/1/2020
- iMarina
Identificación y caracterización de nuevos genes implicados en la función OXPHOS y su posible asociación a patologías humanas
- AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
- Fernandez Piqueras, Jose (Autor o Coautor)
- Miguel Ángel Fernández Moreno (Director)
- Rafael Garesse (Director) Doctorando: Sara Palacios Zambrano
29/6/2018
- iMarina
Caracterización molecular de una cohorte de 258 familias españolas con retinosis pigmentaria autosómica dominante
- Fernandez Piqueras, Jose (Autor o Coautor)
- Ayuso García, Carmen (Director)
- Marta Cortón Pérez (Director)
- Sastre Garzon, Leandro (Tutor) Doctorando: Maria Inmaculada Martín Mérida
19/3/2018
- iMarina
Implementación de las técnicas de secuenciación masiva para la elaboración de nuevos algoritmos diagnósticos e identificación de nuevos genes en distrofias de retina
- Fernandez Piqueras, Jose (Autor o Coautor)
- AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
- Antiñolo Gil, Guillermo (Director)
- Ruiz Desviat, Lourdes (Tutor) Doctorando: Nereida Inés Bravo Gil
19/5/2017
- iMarina
Gene?tica y farmacogene?tica del trastorno por de?ficit de atencio?n e hiperactividad en niños de la poblacio?n española
- Gonzalez Aguilera, Juan Jose (Autor o Coautor)
- Carmen Ayuso García (Director)
- José Fernández Piqueras (Director) Doctorando: Clara Isabel Gómez Sánchez
1/1/2017
- iMarina
Caracterización clínica y genética de familias españolas con retinosis pigmentaria autosómica dominante mediante secuenciación masiva y otras técnicas de diagnóstico molecular
- Marta Cortón Pérez (Director)
- Carmen Ayuso García (Director) Doctorando: Patricia Fernández San José
1/1/2017
- iMarina
Caracterización molecular de las formas precoces de distrofia de retina recesivas y esporádicas en población española: amaurosis congénita de Leber y Retinosis pigmentaria de inicio precoz
- Gonzalez Aguilera, Juan Jose (Autor o Coautor)
- Bullido Gomez-Heras, Maria Jesus (Autor o Coautor)
- Marta Cortón Pérez (Director)
- Carmen Ayuso García (Director) Doctorando: Sorina Daniela Tatu
1/1/2016
- iMarina
SEPT6-ABL2 fusion for use in the diagnosis and/or treatment of cancer
- Fernandez Piqueras, Jose (Autor o Coautor)
- Villa Morales, Maria del Consuelo (Autor o Coautor)
- LAHERA ALONSO, ANTONIO (Autor o Coautor)
- VELA MARTIN, LAURA (Autor o Coautor)
- Lopez Nieva, Maria Pilar (Autor o Coautor)
- AYUSO GARCIA, MARIA DEL CARMEN TOMASA (Autor o Coautor)
- Llamas Sillero, Pilar (Autor o Coautor)
- Lopez Lorenzo, Jose Luis (Autor o Coautor)
26/1/2023
- iMarina
Researcher profiles
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Dialnet id