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

Por Lachgar, María, Morín, Matías, Villamar, Manuela, del Castillo, Ignacio, Moreno-Pelayo, Miguel Ángel
Publicado no Genes (Basel) (2021)

A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss

Por Modamio-Høybjør, Silvia , Mencía, Ángeles , Goodyear, Richard , del Castillo, Ignacio , Richardson, Guy , Moreno, Felipe , Moreno-Pelayo, Miguel Ángel 
Publicado em 2007

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

Por Moreno-Pelayo, Miguel Ángel, Goodyear, Richard J., Mencía, Angeles, Modamio-Høybjør, Silvia, Legan, P. Kevin, Olavarrieta, Leticia, Moreno, Felipe, Richardson, Guy P.
Publicado em 2008

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

Por 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
Publicado no Mol Ther Nucleic Acids (2019)

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

Por 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
Publicado no Genes (Basel) (2019)

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

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2009

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

Por 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
Publicado no Front Genet (2018)

CSVS, a crowdsourcing database of the Spanish population genetic variability

Por 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
Publicado no Nucleic Acids Res (2020)

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

Por 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
Publicado no Am J Hum Genet (2015)