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Egor Dolzhenko
Egor Dolzhenko
Pacific Biosciences
Verified email at pacificbiosciences.com
Title
Cited by
Cited by
Year
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
3332017
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
3082021
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), 2017
2402017
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
2302019
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
2192019
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
1932014
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
1872014
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
1732020
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
1672019
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
1442020
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
1402019
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
1212020
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
1192013
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
1122015
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
1062019
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
1032023
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
1022022
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
972016
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
872019
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
612017
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