基本信息
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Career Trajectory
Bio
I am a physician by training, earning an M.D. degree in 1982, and receiving a Ph.D. in human genetics from the University of Valencia in 1989. Between 1985 and 1989 I trained in pediatrics at the Children's Hospital of the La Fe University Hospital in Valencia, Spain, where I also subspecialized in clinical and human genetics. Since 2015 I have held the position of head of the Department of Genetic and Molecular Medicine and director of the Pediatric Institute of Rare Diseases (IPER) of the Sant Joan de Déu Children's Hospital in Barcelona, where I have also been director of the Sant Joan de Déu Research Institute. Between 2017 and 2022, I was a consultant in rare diseases at the Hospital Clínic of Barcelona. I am also a research professor at the Spanish Council for Scientific Research (CSIC, on leave of absence) and an adjunct professor of pediatrics at the University of Barcelona. My scientific and medical interest is focused on studying the genetic, pathophysiological, and therapeutic bases of neuromuscular diseases and neurodevelopmental disorders. My research group belongs to the Center for Network Biomedical Research in Rare Diseases (CIBERER), of which I was the scientific director between 2006 and 2016. I am the coordinator of Orphanet-Spain and Editor-in-Chief of the Orphanet Journal of Rare Diseases. Recently, the IPER/Genetic Medicine Department is a member of the ERN ITHACA on Intellectual Disability and Congenital Malformations. In 2004 I was awarded the Reina Sofía Prize for the Prevention of Deficiencies.
Research Interests
Papers共 299 篇Author StatisticsCo-AuthorSimilar Experts
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Marivi V. Cascajo-Almenara, Natalia. Juliá-Palacios,Roser Urreizti,Ana Sánchez-Cuesta,Daniel M. Fernández-Ayala, Elena García-Díaz,Clara Oliva,Maria del Mar O´Callaghan,Abraham J. Paredes-Fuentes, Pedro J. Moreno-Lozano, Jordi Muchart,Andres Nascimento,
European Journal of Human Geneticspp.1-9, (2024)
Journal of neuromuscular diseasesno. 3 (2024): 647-653
Jordi Pijuan,Irina F. Sevrioukova, Oscar Garcia-Campos, Mar Hernaez,Laura Gort,Marta Gomez-Chiari,Cristina Jou,Santiago Candela-Canto,Jordi Rumia, Rafael Artuch,Francesc Palau,Janet Hoenicka,
MOVEMENT DISORDERSno. 1 (2024): 215-217
Marivi V. Cascajo-Almenara,Natalia. Julia-Palacios,Roser Urreizti,Ana Sanchez-Cuesta,Daniel M. Fernandez-Ayala, Elena Garcia-Diaz,Clara Oliva,Maria del Mar O'Callaghan,Abraham J. Paredes-Fuentes, Pedro J. Moreno-Lozano,Jordi Muchart,Andres Nascimento,
EUROPEAN JOURNAL OF HUMAN GENETICSno. 4 (2024): 426-434
Daniel Brooks,Elizabeth Burke,Sukyeong Lee,Tanya N Eble,Melanie O'Leary,Ikeoluwa Osei-Owusu,Heidi L Rehm, Shweta U Dhar,Lisa Emrick,David Bick, Michelle Nehrebecky,Ellen Macnamara,
Biology openno. 4 (2023)
Francesc Palau, Carmen Ayuso
Collaborative Bioethics Handbook of Bioethical Decisions. Volume Ipp.123-143, (2023)
Marian León,Javier Prieto,María Micaela Molina-Navarro,Francisco García-García, Manuela Barneo-Muñoz,Xavier Ponsoda, Rosana Sáez,Francesc Palau, Joaquín Dopazo,Juan Carlos Izpisua Belmonte,Josema Torres
Cell Death Discoveryno. 1 (2023): 1-11
Clinical geneticsno. 3 (2023): 340-342
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