| Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 409 | 2021 |
| Detection of long repeat expansions from PCR-free whole-genome sequence data E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ... Genome research 27 (11), 1895-1903, 2017 | 366 | 2017 |
| ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ... Bioinformatics 35 (22), 4754-4756, 2019 | 290 | 2019 |
| Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion J Liu, S Kumar, E Dolzhenko, GF Alvarado, J Guo, C Lu, Y Chen, M Li, ... JCI insight 2 (18), e94716, 2017 | 273 | 2017 |
| Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 245 | 2019 |
| The architecture of a scrambled genome reveals massive levels of genomic rearrangement during development X Chen, JR Bracht, AD Goldman, E Dolzhenko, DM Clay, EC Swart, ... Cell 158 (5), 1187-1198, 2014 | 202 | 2014 |
| Genome-wide detection of tandem DNA repeats that are expanded in autism B Trost, W Engchuan, CM Nguyen, B Thiruvahindrapuram, E Dolzhenko, ... Nature 586 (7827), 80-86, 2020 | 201 | 2020 |
| Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ... The American Journal of Human Genetics 104 (6), 1116-1126, 2019 | 200 | 2019 |
| Using beta-binomial regression for high-precision differential methylation analysis in multifactor whole-genome bisulfite sequencing experiments E Dolzhenko, AD Smith BMC bioinformatics 15, 1-8, 2014 | 198 | 2014 |
| ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data E Dolzhenko, MF Bennett, PA Richmond, B Trost, S Chen, JJFA Van Vugt, ... Genome biology 21, 1-14, 2020 | 172 | 2020 |
| Paragraph: a graph-based structural variant genotyper for short-read sequence data S Chen, P Krusche, E Dolzhenko, RM Sherman, R Petrovski, ... Genome biology 20, 1-13, 2019 | 161 | 2019 |
| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 149 | 2023 |
| Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 147 | 2022 |
| Repeat expansions confer WRN dependence in microsatellite-unstable cancers N van Wietmarschen, S Sridharan, WJ Nathan, A Tubbs, EM Chan, ... Nature 586 (7828), 292-298, 2020 | 146 | 2020 |
| An epigenetic memory of pregnancy in the mouse mammary gland CO Dos Santos, E Dolzhenko, E Hodges, AD Smith, GJ Hannon Cell reports 11 (7), 1102-1109, 2015 | 129 | 2015 |
| Genomes on the edge: programmed genome instability in ciliates JR Bracht, W Fang, AD Goldman, E Dolzhenko, EM Stein, LF Landweber Cell 152 (3), 406-416, 2013 | 121 | 2013 |
| Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease AM Gross, SS Ajay, V Rajan, C Brown, K Bluske, NJ Burns, A Chawla, ... Genetics in Medicine 21 (5), 1121-1130, 2019 | 120 | 2019 |
| The APOE4 allele shows opposite sex bias in microbleeds and Alzheimer's disease of humans and mice M Cacciottolo, A Christensen, A Moser, J Liu, CJ Pike, C Smith, MJ LaDu, ... Neurobiology of aging 37, 47-57, 2016 | 103 | 2016 |
| Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS ABP van Kuilenburg, M Tarailo-Graovac, PA Richmond, BI Drögemöller, ... New England Journal of Medicine 380 (15), 1433-1441, 2019 | 97 | 2019 |
| lncRNA requirements for mouse acute myeloid leukemia and normal differentiation MJ Delas, LR Sabin, E Dolzhenko, SRV Knott, E Munera Maravilla, ... Elife 6, e25607, 2017 | 66 | 2017 |
