Author Information
Dr. Luis Alberto Pérez-Jurado is affiliated with the Genetics Unit, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, located in Barcelona, Spain. His research primarily focuses on genetics and rare diseases, contributing significantly to the field through collaborative initiatives and individual research projects.
Research Contributions
Dr. Luis Alberto Pérez-Jurado has made substantial contributions to the field of genetics, particularly in the study of rare diseases. His recent papers cover a wide range of topics including the diagnosis of genetic white matter disorders through whole-exome and genome sequencing, the variability in Phelan-McDermid Syndrome, and the functional implications of biallelic alterations in PLXND1. Additionally, he has explored therapeutic interventions for behavioral alterations in Williams Syndrome and investigated genetic variants relevant to cerebral palsy. His work also delves into the physiological and pathological roles of Pregnancy-Associated Plasma Protein A2 (PAPP-A2).
Aliases
Dr. Luis Alberto Pérez-Jurado is known by several aliases in academic publications, including Luis A. Pérez-Jurado, Luis Perez-jurado, Luis A Pérez-jurado, Luis Alberto Pérez-jurado, L. A. Pérez-jurado, and others. These variations reflect the diverse ways his name appears across different research papers and collaborations. Publication and Citation Metrics
| Metric |
Value |
| Citation Count |
6873 |
| h-index |
43 |
| Paper Count |
166 |
