Valerie V. Maduro
National Institutes of Health(US)The Coordinating Center(US)National Institutes of Health Clinical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, RNA and protein synthesis mechanisms
Most-Cited Works
- → Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project(2007)5,240 cited
- → The complete sequence of a human genome(2022)3,192 cited
- → A physical map of the human genome(2001)928 cited
- → Telomere-to-telomere assembly of a complete human X chromosome(2020)823 cited
- → Comparative analyses of multi-species sequences from targeted genomic regions(2003)662 cited
- → Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome(2007)220 cited
- → The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion