Dimitris Polychronopoulos
Dimitris Polychronopoulos
AstraZeneca Oncology R&D
Verified email at astrazeneca.com - Homepage
Title
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
3032015
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
2652009
Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli
C Pleguezuelos-Manzano, J Puschhof, AR Huber, A van Hoeck, ...
Nature 580 (7802), 269-273, 2020
1892020
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
562017
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
292020
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
282014
Opportunities and challenges for molecular understanding of ciliopathies–The 100,000 genomes project
G Wheway, HM Mitchison, JC Ambrose, EL Baple, M Bleda, ...
Frontiers in genetics 10, 127, 2019
272019
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
272014
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
232020
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
222017
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), 1-16, 2020
172020
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
172019
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), 2020
132020
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
102020
Neuronal intranuclear inclusion disease is genetically heterogeneous
Z Chen, W Yan Yau, Z Jaunmuktane, A Tucci, P Sivakumar, ...
Annals of clinical and translational neurology 7 (9), 1716-1725, 2020
102020
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
T Nemani, D Steel, M Kaliakatsos, C DeVile, A Ververi, R Scott, S Getov, ...
Journal of the Peripheral Nervous System 25 (2), 117-124, 2020
102020
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
102020
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
VT Huynh, MP Audrézet, JA Sayer, AC Ong, S Lefevre, V Le Brun, ...
Kidney international 98 (2), 476-487, 2020
92020
Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
JM Ellingford, HB Thomas, C Rowlands, G Arno, G Beaman, ...
BioRxiv, 781088, 2019
92019
Fractality and entropic scaling in the chromosomal distribution of conserved noncoding elements in the human genome
D Polychronopoulos, L Athanasopoulou, Y Almirantis
Gene 584 (2), 148-160, 2016
92016
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