Egor Dolzhenko
Pacific Biosciences (United States)(US)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Genomics and Phylogenetic Studies, Genomics and Rare Diseases, RNA modifications and cancer, Mitochondrial Function and Pathology
Most-Cited Works
- → Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology(2021)522 cited
- → Detection of long repeat expansions from PCR-free whole-genome sequence data(2017)425 cited
- → ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions(2019)384 cited
- → Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion(2017)288 cited
- → Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS(2019)282 cited
- → Genome-wide detection of tandem DNA repeats that are expanded in autism(2020)253 cited
- → ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data(2020)219 cited
- → Paragraph: a graph-based structural variant genotyper for short-read sequence data(2019)208 cited
- → Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease(2019)204 cited
- → Repeat expansions confer WRN dependence in microsatellite-unstable cancers(2020)192 cited