Benjamín Rodríguez‐Santiago
Universitat Autònoma de Barcelona(ES)Instituto de Salud Carlos III(ES)Hospital de Sant Pau(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Instituto de Investigación de Enfermedades Raras(ES)Institut de Recerca Sant Pau(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Alzheimer's disease research and treatments
Most-Cited Works
- → Detectable clonal mosaicism and its relationship to aging and cancer(2012)589 cited
- → De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome(2011)277 cited
- → Mosaic loss of chromosome Y is associated with common variation near TCL1A(2016)230 cited
- → Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders(2015)134 cited
- → The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies(2015)125 cited
- → Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome(2010)121 cited