Jordi Pijuan Marquilles
The landscape between the phenotype and the genotype of developmental neurological diseases: Validation of a clinical functional biology model
The researcher Jordi Pijuan graduated in Biology in 2009 at the University of Girona. In 2010 and 2011 he obtained the master's degrees in Advanced Microbiology from the University of Barcelona and a master's degree in Biotechnology in health sciences. He has a PhD in Molecular Biology from the University of Lleida since 2015.
During the academic year 2017/2018 he served as associate professor in the degree of Physiotherapy and Human Nutrition and Dietetics of the University of Lleida.
In 2018, he joined as a postdoctoral researcher in the group of Neurogenetics and Molecular Medicine (Sant Joan de Déu Research Institute), where his research activity focuses on the functional validation of genetic variants in patients with neurological diseases of development.
Professional network profiles
- Pijuan J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. AUTISM RESEARCH . 14(6): 1088-1100.
- Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274.
- Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90.