Παρακολούθηση
Dimitris Polychronopoulos
Dimitris Polychronopoulos
Chief Data Officer & Co-founder @CureCollect
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα curecollect.com - Αρχική σελίδα
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Mutational signature in colorectal cancer caused by genotoxic pks+E. coli
C Pleguezuelos-Manzano, J Puschhof, A Rosendahl Huber, A van Hoeck, ...
Nature 580 (7802), 269-273, 2020
8342020
An overview of the BIOASQ large-scale biomedical semantic indexing and question answering competition
G Tsatsaronis, G Balikas, P Malakasiotis, I Partalas, M Zschunke, ...
BMC bioinformatics 16, 1-28, 2015
6802015
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
4832021
A key role for Ctf4 in coupling the MCM2‐7 helicase to DNA polymerase α within the eukaryotic replisome
A Gambus, F Van Deursen, D Polychronopoulos, M Foltman, RC Jones, ...
The EMBO journal 28 (19), 2992-3004, 2009
3052009
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
1312022
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
X Zou, GCC Koh, AS Nanda, A Degasperi, K Urgo, TI Roumeliotis, ...
Nature cancer 2 (6), 643-657, 2021
1262021
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
J Gibson, R Fieldhouse, MMY Chan, O Sadeghi-Alavijeh, L Burnett, V Izzi, ...
Journal of the American Society of Nephrology 32 (9), 2273-2290, 2021
1242021
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
W Wei, AT Pagnamenta, N Gleadall, A Sanchis-Juan, J Stephens, ...
Nature communications 11 (1), 1740, 2020
1012020
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project
G Wheway, Genomics England Research Consortium, HM Mitchison
Frontiers in genetics 10, 127, 2019
932019
Human and mouse essentiality screens as a resource for disease gene discovery
P Cacheiro, V Muñoz-Fuentes, SA Murray, ME Dickinson, M Bucan, ...
Nature communications 11 (1), 655, 2020
922020
Conserved non-coding elements: developmental gene regulation meets genome organization
D Polychronopoulos, JWD King, AJ Nash, G Tan, B Lenhard
Nucleic acids research 45 (22), 12611-12624, 2017
922017
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ...
Neuron 109 (3), 448-460. e4, 2021
792021
Knowledge graph-based recommendation framework identifies drivers of resistance in EGFR mutant non-small cell lung cancer
A Gogleva, D Polychronopoulos, M Pfeifer, V Poroshin, M Ughetto, ...
Nature communications 13 (1), 1667, 2022
602022
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
CL Jones, A Degasperi, V Grandi, TD Amarante, TJ Mitchell, S Nik-Zainal, ...
Scientific reports 11 (1), 3962, 2021
472021
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ...
Genetics in Medicine 22 (12), 2041-2051, 2020
452020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
DA Parry, CA Martin, P Greene, JA Marsh, M Blyth, H Cox, D Donnelly, ...
Genetics in Medicine 23 (2), 408-414, 2021
442021
On avoided words, absent words, and their application to biological sequence analysis
Y Almirantis, P Charalampopoulos, J Gao, CS Iliopoulos, M Mohamed, ...
Algorithms for Molecular Biology 12, 1-12, 2017
362017
Conserved noncoding elements follow power-law-like distributions in several genomes as a result of genome dynamics
D Polychronopoulos, D Sellis, Y Almirantis
PloS one 9 (5), e95437, 2014
352014
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
N Dominik, S Magri, R Currò, E Abati, S Facchini, M Corbetta, ...
Brain 146 (12), 5060-5069, 2023
322023
Classification of selectively constrained DNA elements using feature vectors and rule-based classifiers
D Polychronopoulos, E Weitschek, S Dimitrieva, P Bucher, G Felici, ...
Genomics 104 (2), 79-86, 2014
322014
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