Luis A. Pérez‐Jurado
Pompeu Fabra University(ES)Universitat Pompeu Fabra(ES)Instituto de Salud Carlos III(ES)Spanish National Centre for Cardiovascular Research(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Centro de Investigación Biomédica en Red(ES)Hospital Del Mar(ES)Instituto Murciano de Investigación Biosanitaria(ES)Barcelona Institute for Global Health(ES)Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable(ES)Hospital del Mar Research Institute(ES)Instituto de Investigación de Enfermedades Raras(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Williams Syndrome Research, Congenital heart defects research
Most-Cited Works
- → A DNA methylation fingerprint of 1628 human samples(2011)416 cited
- → Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus(2005)315 cited
- → Mosaic loss of chromosome Y is associated with common variation near TCL1A(2016)230 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF ‐I availability(2016)209 cited
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited