Luis A. Pérez‐Jurado

机构：Universitat Pompeu Fabra, Instituto de Salud Carlos III, Spanish National Centre for Cardiovascular Research, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Hospital Del Mar, Instituto Murciano de Investigación Biosanitaria, Barcelona Institute for Global Health, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable, Hospital del Mar Research Institute, Instituto de Investigación de Enfermedades Raras · ORCID：0000-0002-1988-3005

发表论文 202 篇 · 总被引 8849 次 · h-index 54

代表论文

• Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy (2025 · Nature Genetics · 被引 47)
• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2023 · Journal of Clinical Investigation · 被引 46)
• A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells (2024 · European Journal of Human Genetics · 被引 13)
• Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2 (2024 · Communications Biology · 被引 10)
• Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort (2024 · Genetics in Medicine · 被引 9)
• ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization (2023 · Genome Medicine · 被引 9)