Luis Perez-Jurado

  • 6053 Citations
  • 45 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

Extreme downregulation of chromosome Y and Alzheimer's disease in men

Caceres, A., Jene, A., Esko, T., Perez-Jurado, L. & Gonzalez, J. R., 1 Jun 2020, In : Neurobiology of Aging. 90, p. 150.e1-150.e4

Research output: Contribution to journalArticle

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Urreizti, R., Lopez-Martin, E., Martinez-Monseny, A., Pujadas, M., Castilla-Vallmanya, L., Pérez-Jurado, L. A., Serrano, M., Natera-De Benito, D., Martínez-Delgado, B., Posada-De-La-Paz, M., Alonso, J., Marin-Reina, P., O'callaghan, M., Grinberg, D., Bermejo-Sánchez, E. & Balcells, S., 10 Feb 2020, In : Orphanet Journal of Rare Diseases. 15, 1, 44.

Research output: Contribution to journalArticle

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

The SOGRI Consortium, 1 Mar 2020, In : Clinical Genetics. 97, 3, p. 467-476 10 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Serra-Juhé, C., Martos-Moreno, G., Bou de Pieri, F., Flores, R., Chowen, J. A., Perez-Jurado, L. & Argente, J., 1 Apr 2020, In : International Journal of Obesity. 44, 4, p. 830-841 12 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)