Luis Perez-Jurado

  • 5831 Citations
  • 43 h-Index
1989 …2020

Research output per year

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Personal profile

Public Profile

Professor Luis Perez-Jurado Joined SAHMRI in March 2018 as Senior Clinical Research Fellow to facilitate and drive research into the prevention of childhood disability using genetics and genomics tools and resources.  Working with the Channel 7 Chair for the Prevention of Childhood Disability Professor Jozef Gecz he is facilitating clinical interpretation of genetic variation identified as part of various research projects and actively involved in translational research.

He is a senior clinician and researcher with an international reputation, recognised by his peers for his contributions to the field of genetics of childhood onset neurodevelopmental disabilities.

Luis is a Medical Doctor with a PhD (Genetics) from the Autonomous University of Madrid.  He is also a specialist in Family Practice (Granada, Spain), Paediatrics (Madrid, Spain), Clinical Genetics and Clinical Molecular Genetics (Vanderbilt and Stanford, USA).  He has held positions in Spain and the United States before commencing as a Clinical Genetics at the Women’s and Children’s Health Network in Adelaide and Clinical Professor at the University of Adelaide.  He also holds tenured positions as Professor of Genetics, Universitat Pompeu Fabra and Clinical Consultant, Hospital del Mar & qGenomics Laboratory, in Barcelona, Spain, where he coordinates the Programs for Undiagnosed Rare Diseases of Catalonia and the Network Centre for Rare Diseases CIBERER (URDCat & ENoD).

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Research Output

1 Citation (Scopus)

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Bogliolo, M., Pujol, R., Aza-Carmona, M., Muñoz-Subirana, N., Rodriguez-Santiago, B., Casado, J. A., Rio, P., Bauser, C., Reina-Castillón, J., Lopez-Sanchez, M., Gonzalez-Quereda, L., Gallano, P., Catalá, A., Ruiz-Llobet, A., Badell, I., DIaz-Heredia, C., Hladun, R., Senent, L., Argiles, B., Bergua Burgues, J. M. & 48 othersBañez, F., Arrizabalaga, B., López Almaraz, R., Lopez, M., Figuera, Á., Molinés, A., Pérez De Soto, I., Hernando, I., Muñoz, J. A., Del Rosario Marin, M., Balmaña, J., Stjepanovic, N., Carrasco, E., Cuesta, I., Cosuelo, J. M., Regueiro, A., Moraleda Jimenez, J., Galera-Miñarro, A. M., Rosiñol, L., Carrió, A., Beléndez-Bieler, C., Escudero Soto, A., Cela, E., De La Mata, G., Fernández-Delgado, R., Garcia-Pardos, M. C., Sáez-Villaverde, R., Barragaño, M., Portugal, R., Lendinez, F., Hernadez, I., Vagace, J. M., Tapia, M., Nieto, J., Garcia, M., Gonzalez, M., Vicho, C., Galvez, E., Valiente, A., Antelo, M. L., Ancliff, P., Garcia, F., Dopazo, J., Sevilla, J., Paprotka, T., Perez-Jurado, L., Bueren, J. & Surralles, J., 1 Apr 2020, In : Journal of Medical Genetics. 57, 4, p. 258-268 11 p.

Research output: Contribution to journalArticle

Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (npj Genomic Medicine, (2018), 3, 1, (33), 10.1038/s41525-018-0073-4)

Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., Berry, J. G., Azmanov, D. N., Woodward, K. J., Gardner, A. E., Slee, J., Perez-Jurado, L., MacLennan, A. H. & Gecz, J., 31 May 2019, In : npj Genomic Medicine. 4, 1, 11.

Research output: Contribution to journalComment/debate

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

Codina-Sola, M., Costa-Roger, M., Pérez-García, D., Flores, R., Palacios-Verdú, M. G., Cusco, I. & Perez-Jurado, L., 14 Aug 2019, In : Journal of Medical Genetics. 56, 12, p. 801-808 8 p., e106080.

Research output: Contribution to journalArticle

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

MacLennan, A. H., Lewis, S., Moreno-De-Luca, A., Fahey, M., Leventer, R. J., McIntyre, S., Ben-Pazi, H., Corbett, M., Wang, X., Baynam, G., Fehlings, D., Kurian, M. A., Zhu, C., Himmelmann, K., Smithers-Sheedy, H., Wilson, Y., Ocaña, C. S., van Eyk, C., Badawi, N., Wintle, R. F. & 8 othersJacobsson, B., Amor, D. J., Mallard, C., Perez-Jurado, L., Hallman, M., Rosenbaum, P. J., Kruer, M. C. & Gecz, J., 1 Jul 2019, In : Journal of Child Neurology. 34, 8, p. 472-476 5 p.

Research output: Contribution to journalReview article

8 Citations (Scopus)