A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

door Lachgar, María, Morín, Matías, Villamar, Manuela, del Castillo, Ignacio, Moreno-Pelayo, Miguel Ángel
Gepubliceerd in Genes (Basel) (2021)

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

door López-Huertas, María Rosa, Morín, Matías, Madrid-Elena, Nadia, Gutiérrez, Carolina, Jiménez-Tormo, Laura, Santoyo, Javier, Sanz-Rodríguez, Francisco, Moreno Pelayo, Miguel Ángel, Bermejo, Laura García, Moreno, Santiago
Gepubliceerd in Mol Ther Nucleic Acids (2019)

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

door Al Yassin, Amina, D’Arco, Felice, Morín, Matías, Pagarkar, Waheeda, Harrop-Griffiths, Katherine, Shaida, Azhar, Fernández, Elena, Cullup, Tom, De-Souza, Bianca, Moreno-Pelayo, Miguel Angel, Bitner-Glindzicz, Maria
Gepubliceerd in Genes (Basel) (2019)

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

door Legan, P. Kevin, Goodyear, Richard J., Morín, Matías, Mencia, Angeles, Pollard, Hilary, Olavarrieta, Leticia, Korchagina, Julia, Modamio-Hoybjor, Silvia, Mayo, Fernando, Moreno, Felipe, Moreno-Pelayo, Miguel-Angel, Richardson, Guy P.
Gepubliceerd in 2014

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

door Morín, Matías, Bryan, Keith E., Mayo-Merino, Fernando, Goodyear, Richard, Mencía, Ángeles, Modamio-Høybjør, Silvia, del Castillo, Ignacio, Cabalka, Jessica M., Richardson, Guy, Moreno, Felipe, Rubenstein, Peter A., Moreno-Pelayo, Miguel Ángel
Gepubliceerd in 2009

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

door Tarilonte, María, Morín, Matías, Ramos, Patricia, Galdós, Marta, Blanco-Kelly, Fiona, Villaverde, Cristina, Rey-Zamora, Dolores, Rebolleda, Gema, Muñoz-Negrete, Francisco J., Tahsin-Swafiri, Saoud, Gener, Blanca, Moreno-Pelayo, Miguel-Angel, Ayuso, Carmen, Villamar, Manuela, Corton, Marta
Gepubliceerd in Front Genet (2018)

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

door Morín, Matias, Borreguero, Lucía, Booth, Kevin T, Lachgar, María, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio, Luis Carlos, Santos Serrão de Castro, Luciana, Morales, Carmelo, del Castillo, Ignacio, Arellano, Beatriz, Tellería, Dolores, Smith, Richard J. H., Azaiez, Hela, Moreno Pelayo, M. A.
Gepubliceerd in Sci Rep (2020)

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

door Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Van Wesemael, Maarten, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.
Gepubliceerd in 2011

CSVS, a crowdsourcing database of the Spanish population genetic variability

door Peña-Chilet, María, Roldán, Gema, Perez-Florido, Javier, Ortuño, Francisco M, Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L, Gallego, Asunción, García-Garcia, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A, Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín
Gepubliceerd in Nucleic Acids Res (2020)

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

door Zazo Seco, Celia, Serrão de Castro, Luciana, van Nierop, Josephine W., Morín, Matías, Jhangiani, Shalini, Verver, Eva J.J., Schraders, Margit, Maiwald, Nadine, Wesdorp, Mieke, Venselaar, Hanka, Spruijt, Liesbeth, Oostrik, Jaap, Schoots, Jeroen, van Reeuwijk, Jeroen, Lelieveld, Stefan H., Huygen, Patrick L.M., Insenser, María, Admiraal, Ronald J.C., Pennings, Ronald J.E., Hoefsloot, Lies H., Arias-Vásquez, Alejandro, de Ligt, Joep, Yntema, Helger G., Jansen, Joop H., Muzny, Donna M., Huls, Gerwin, van Rossum, Michelle M., Lupski, James R., Moreno-Pelayo, Miguel Angel, Kunst, Henricus P.M., Kremer, Hannie
Gepubliceerd in Am J Hum Genet (2015)