Eva Bermejo-Sánchez

ResearcherID Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 6

Top Venues

International journal of environmental research and public health

Human mutation

Journal of community genetics

International journal of molecular sciences

Instituto de Salud Carlos III

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

Affiliation History

Instituto de Salud Carlos III Oct 23 2015

Spain

Directora Científica /Scientific Director :: Biobanco Nacional del Instituto de Salud Carlos III

Instituto de Salud Carlos III Jan 08 2009

Spain

Jefe de Área/ Chief of Area (IIER). Coordinadora Científica del ECEMC /Scientific Coordinator of ECEMC :: Instituto de Investigación de Enfermedades Raras (IIER), Centro de Investigación sobre Anomalías Congénitas (CIAC) /Institute of Rare Diseases Research (IIER), Research Center on Congenital Anomalies (CIAC)

ECEMC (Estudio Colaborativo Español de Malformaciones Congénitas) Jan 30 1987 - Jan 07 2009

Spain

Responsable :: Sección de Epidemiología

Publications

Beatriz Baladron, Lidia M Mielu, Estrella López-Martín, Maria Jose Barrero, Lidia Lopez, Jose I Alvarado, Sara Monzón, Sarai Varona, Isabel Cuesta, Rosario Cazorla, Julián Lara, Gemma Iglesias, Enriqueta Román, Purificación Ros, Gema Gomez-Mariano, Isabel Cubillo, Esther Hernandez-San Miguel, Daniel Rivera, Javier Alonso, Eva Bermejo-Sánchez, Manuel Posada-de-la-Paz, Beatriz Martinez Delgado
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder. International journal of molecular sciences 23 (16) (2022)
Fatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, Patrick J Morrison, Evren Gumus, Katherine D Mathews, Benjamin W Darbro, David J Amor, Maie Walsh, Yves Sznajer, Luisa Weiß, Sabine Weidensee, David Chitayat, Patrick Shannon, Eva Bermejo-Sánchez, Isolina Riaño Galán, Ian Hayes, Gemma Poke, Caroline Rooryck, Perrine Pennamen, Suonavy Khung-Savatovsky, Annick Toutain, Marie-Laure Vuillaume, Siavash Ghaderi-Sohi, Mohamad H Kariminejad, Sönke Weinert, Heinrich Sticht, Martin Zenker, Denny Schanze
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human mutation 41 (9) (2020)
Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, Patricia Soto-Bielicka, Antonio Torres, Purificación Marín, Elena Aller, Leyli Şentürk, Ömer Berköz, Mehmet Yıldıran, Hülya Kayserili, Elena Gil-Camarero, Gloria Colli-Lista, Amparo Sanchís-Calvo, Alba Carretero, null null, Encarna Guillén-Navarro, Vanesa López-González, María Ballesta-Martínez, Jordi Rosell, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Lourdes Cuevas-Catalina, María-Nieves Torres-Saavedra, Julian Nevado, Jair Tenorio, Pablo Lapunzina, Eva Bermejo-Sánchez, Victor L Ruiz-Perez
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Human mutation 41 (1) (2019)
Estrella López-Martín, Beatriz Martinez Delgado, Eva Bermejo-Sánchez, Javier Alonso, null null, Manuel Posada-de-la-Paz
SpainUDP: The Spanish Undiagnosed Rare Diseases Program. International journal of environmental research and public health 15 (8) (2018)
Eva Bermejo-Sánchez, Lorenzo D Botto, Marcia L Feldkamp, Boris Groisman, Pierpaolo Mastroiacovo
Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective. Journal of community genetics 9 (4) (2018)
Verónica Alonso-Ferreira, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada-de-la-Paz, Eva Bermejo-Sánchez
A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies. International journal of environmental research and public health 15 (8) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Eva Bermejo-Sánchez