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Dimitris Polychronopoulos
Dimitris Polychronopoulos
AstraZeneca Oncology R&D
Verified email at astrazeneca.com - Homepage
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Cited by
Cited by
Year
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), 1-28, 2015
4572015
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
4202020
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
2832009
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
1162021
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
752017
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), 1-11, 2020
652020
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
612019
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ...
Annals of neurology 88 (5), 867-877, 2020
472020
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
412021
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
392021
Human and mouse essentiality screens as a resource for disease gene discovery
P Cacheiro, V Muņoz-Fuentes, SA Murray, ME Dickinson, M Bucan, ...
Nature communications 11 (1), 1-16, 2020
392020
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
382021
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ...
Brain 143 (11), 3242-3261, 2020
382020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
BL Latour, JC Van De Weghe, TDS Rusterholz, SJF Letteboer, A Gomez, ...
The Journal of clinical investigation 130 (8), 4423-4439, 2020
362020
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
AT Pagnamenta, P Heemeryck, HC Martin, C Bosc, L Peris, I Uszynski, ...
Human molecular genetics 28 (20), 3391-3405, 2019
352019
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling
MT Prentzell, U Rehbein, MC Sandoval, AS De Meulemeester, ...
Cell 184 (3), 655-674. e27, 2021
342021
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
S Cuvertino, V Hartill, A Colyer, T Garner, N Nair, L Al-Gazali, N Canham, ...
Genetics in Medicine 22 (5), 867-877, 2020
342020
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
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), 1-12, 2017
282017
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
282014
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Articles 1–20