M Villamar

Affiliations

Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Hospital Universitario Ramón y Cajal, Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España.

Publications (8)

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

Genes

Avec: María Lachgar , Matías Morín , Manuela Villamar , Ignacio Del Castillo , Miguel Ángel Moreno-Pelayo

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Archivos de la Sociedad Espanola de Oftalmologia

Avec: F Blanco-Kelly , M Tarilonte , M Villamar , A Damián , A Tamayo , M A Moreno-Pelayo , C Ayuso , M Cortón

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Archivos de la Sociedad Espanola de Oftalmologia

Avec: F Blanco-Kelly , M Tarilonte , M Villamar , A Damián , A Tamayo , M A Moreno-Pelayo , C Ayuso , M Cortón

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

Journal of translational medicine

Avec: 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

Novel Pathogenic Variants in

Genes

Avec: María Domínguez-Ruiz , Montserrat Rodríguez-Ballesteros , Marta Gandía , Elena Gómez-Rosas , Manuela Villamar , Pietro Scimemi , Patrizia Mancini , Nanna D Rendtorff , Miguel A Moreno-Pelayo , Lisbeth Tranebjaerg , Carme Medà , Rosamaria Santarelli , Ignacio Del Castillo

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

Genes

Avec: María Domínguez-Ruiz , Margarita Olarte , Esther Onecha , Irene García-Vaquero , Nancy Gelvez , Greizy López , Manuela Villamar , Matías Morín , Miguel A Moreno-Pelayo , Carmelo Morales-Angulo , Rubén Polo , Martha L Tamayo , Ignacio Del Castillo

Novel Pathogenic Variants in the Gene Encoding Stereocilin (

Biomedicines

Avec: María Domínguez-Ruiz , Laura Ruiz-Palmero , Paula I Buonfiglio , Irene García-Vaquero , Elena Gómez-Rosas , Marina Goñi , Manuela Villamar , Matías Morín , Miguel A Moreno-Pelayo , Ana B Elgoyhen , Francisco J Del Castillo , Viviana Dalamón , Ignacio Del Castillo

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

Scientific reports

Avec: 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

Réseau de co-auteurs

Manuela Villamar 6 collaborations

Ignacio Del Castillo 6 collaborations

María Domínguez-Ruiz 4 collaborations

Miguel A Moreno-Pelayo 4 collaborations

Matías Morín 3 collaborations

María Lachgar 2 collaborations

F Blanco-Kelly 2 collaborations

M Tarilonte 2 collaborations

A Damián 2 collaborations

A Tamayo 2 collaborations

M A Moreno-Pelayo 2 collaborations

C Ayuso 2 collaborations

M Cortón 2 collaborations

Elena Gómez-Rosas 2 collaborations

Irene García-Vaquero 2 collaborations

Miguel Ángel Moreno-Pelayo 1 collaboration

Alberto García-Martínez 1 collaboration

Marc Corral-Juan 1 collaboration

Ángel I Pérez-Álvarez 1 collaboration

Ana M Plasencia 1 collaboration

Antoni Matilla-Dueñas 1 collaboration

Manuel Menéndez-González 1 collaboration

Montserrat Rodríguez-Ballesteros 1 collaboration

Marta Gandía 1 collaboration

Pietro Scimemi 1 collaboration

Patrizia Mancini 1 collaboration

Nanna D Rendtorff 1 collaboration

Lisbeth Tranebjaerg 1 collaboration

Carme Medà 1 collaboration

Rosamaria Santarelli 1 collaboration

Margarita Olarte 1 collaboration

Esther Onecha 1 collaboration

Nancy Gelvez 1 collaboration

Greizy López 1 collaboration

Carmelo Morales-Angulo 1 collaboration

Rubén Polo 1 collaboration

Martha L Tamayo 1 collaboration

Laura Ruiz-Palmero 1 collaboration

Paula I Buonfiglio 1 collaboration

Marina Goñi 1 collaboration

Ana B Elgoyhen 1 collaboration

Francisco J Del Castillo 1 collaboration

Viviana Dalamón 1 collaboration

Matias Morín 1 collaboration

Lucía Borreguero 1 collaboration

Kevin T Booth 1 collaboration

Patrick Huygen 1 collaboration

Fernando Mayo 1 collaboration

Luis Carlos Barrio 1 collaboration

Luciana Santos Serrão de Castro 1 collaboration

Carmelo Morales 1 collaboration

Beatriz Arellano 1 collaboration

Dolores Tellería 1 collaboration

Richard J H Smith 1 collaboration

Hela Azaiez 1 collaboration

M A Moreno Pelayo 1 collaboration