Ignacio Del Castillo

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 17

Top Topics

Duchenne Muscular Dystrophy

Spectrum Disorder

Top Venues

Audiology research

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

Publications

María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castillo
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 15 (7) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castillo
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 15 (7) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J Del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio Del Castillo
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. BMC genomics 25 (1) (2024)
María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castillo
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 15 (7) (2024)
María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matias Morín, Miguel Angel Moreno-Pelayo, Ana Belén Elgoyhen, Francisco J Del Castillo, Viviana Dalamón, Ignacio Del Castillo
Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects. Biomedicines 11 (11) (2023)
Laurence Jonard, Davide Brotto, Miguel Angel Moreno-Pelayo, Ignacio Del Castillo, Hannie Kremer, Ronald J E Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey-Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, Sandrine Marlin
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment. Audiology research 13 (3) (2023)
Hannie Kremer, Ignacio Del Castillo
Genetics of Hearing Impairment. Genes 13 (5) (2022)
María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D Rendtorff, Miguel Angel Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio Del Castillo
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. Genes 13 (1) (2022)
Ignacio Del Castillo, Matias Morín, María Domínguez-Ruiz, Miguel Angel Moreno-Pelayo
Genetic etiology of non-syndromic hearing loss in Europe. Human genetics 141 (3-4) (2022)
Rosamaria Santarelli, Pietro Scimemi, Chiara La Morgia, Elona Cama, Ignacio Del Castillo, Valerio Carelli
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene. Audiology research 11 (4) (2021)
Matias Morín, Lucía Borreguero, Kevin T Booth, María Lachgar, Patrick Huygen, Manuela Villamar, Fernando Mayo, Luis Carlos Barrio, Luciana Santos Serrão de Castro, Carmelo Morales, Ignacio Del Castillo, Beatriz Arellano, Dolores Tellería, Richard J H Smith, Hela Azaiez, M A Moreno Pelayo
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. Scientific reports 10 (1) (2020)
María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I Pérez-Álvarez, Ana M Plasencia, Manuela Villamar, Miguel A Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio Del Castillo
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. Journal of translational medicine 17 (1) (2019)
Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong-Wai Choy, Yen-Fu Cheng, Karen B Avraham, Xinhua Hu, Gema Garrido, Miguel Angel Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E Hemphill, Andrew R Grant, Rebecca K Siegert, Marina T DiStefano, Sami S Amr, Michael J Bamshad, Ahmad N Abou Tayoun, null null
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)