基本信息
浏览量:19
职业迁徙
个人简介
Director of IIER (Institute for Rare Disease Research), Scientific Researcher of ISCIII (Institute of Health Carlos III), Head of the Research Unit on Congenital Anomalies (UIAC) of IIER. Scientific Coordinator of ECEMC (Spanish Collaborative Study of Congenital Malformations) and its Clinical Network, and Responsible for the Clinical Genetics and Epidemiology Section. Collaborator of SpainUDP, the Spanish Undiagnosed Rare Diseases Program, of IIER. Researcher of ICBDSR and EUROCAT. Principal Investigator for ISCIII at the European Joint Programme on Rare Diseases (EJP RD). Scientific Director of the National Biobank of ISCIII. Former President of the Executive Committee of ICBDSR (International Clearinghouse for Birth Defects Surveillance and Research). Member of the Advisory Committee of FEDER (Spanish Federation of Rare Diseases). Member of the Clinical Advisory Committee of RDMM (the European Rare Disease Models & Mechanisms Network), of the project "Solve-RD - solving the unsolved rare diseases". Three Scientific awards. Accredited in Human Genetics. 25 funded projects and 21 contracts/148 articles in indexed scientific journals/ 16 books or book chapters/ participation in more than 145 academic or educational activities. Organization of more than 45 scientific national or international meetings. Participation in the inception and organization of the World Birth Defects Day, since 2015. Evaluator of ANEP. [Updated: May, 2023]
研究兴趣
论文共 128 篇作者统计合作学者相似作者
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Beatriz Martinez-Delgado,Estrella Lopez-Martin,Jennifer Kerkhof,Beatriz Baladron, Lidia M Mielu,Diana Sanchez-Ponce, Ariadna Bada-Navarro, Marina Herrero-Matesanz,Lidia Lopez-Jimenez, Jessica Rzasa,Dmitrijs Rots,Marta Fernandez,
medrxiv(2024)
Danielle L Kleven,Cara T Mai,Eva Bermejo-Sánchez,Boris Groisman,Salimah Walani, Jessica Peck,Viviana Cosentino,Lorenzo D Botto, Simonetta Zezza,Paul A Romitti,Pierpaolo Mastroiacovo
Birth defects researchno. 12 (2023): 1140-1150
ACTA PSYCHIATRICA SCANDINAVICA (2023)
Charlotte Gehin,Museer A Lone,Winston Lee,Laura Capolupo,Sylvia Ho, Adekemi M Adeyemi,Erica H Gerkes,Alexander Pa Stegmann,Estrella López-Martín,Eva Bermejo-Sánchez,Beatriz Martínez-Delgado, Christiane Zweier,
The Journal of clinical investigationno. 10 (2023)
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American journal of perinatologyno. 9 (2022): 1143-1154
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