| 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), 138, 2015 | 264 | 2015 |
| 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 | 248 | 2009 |
| 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 | 83 | 2020 |
| 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 | 50 | 2017 |
| 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 | 29 | 2014 |
| 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 | 26 | 2014 |
| 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 | 19 | 2017 |
| 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 | 14 | 2019 |
| 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 | 13 | 2019 |
| 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 | 11 | 2020 |
| Tutorials and guidelines P Malakasiotis, I Androutsopoulos, Y Almirantis, D Polychronopoulos, ... BioASQ Deliverable D 3 (7), 1-6.2, 2013 | 10 | 2013 |
| 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 | 9 | 2016 |
| 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 | 8 | 2020 |
| Analysis and classification of constrained DNA elements with n-gram graphs and genomic signatures D Polychronopoulos, A Krithara, C Nikolaou, G Paliouras, Y Almirantis, ... International Conference on Algorithms for Computational Biology, 220-234, 2014 | 7 | 2014 |
| 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, 2020 | 5 | 2020 |
| CNEFinder: finding conserved non-coding elements in genomes LAK Ayad, SP Pissis, D Polychronopoulos Bioinformatics 34 (17), i743-i747, 2018 | 5 | 2018 |
| 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 | 4 | 2020 |
| 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, 2020 | 4 | 2020 |
| Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation E Martin, N Minet, AC Boschat, S Sanquer, S Sobrino, C Lenoir, ... JCI insight 5 (5), 2020 | 4 | 2020 |
| 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 | 3 | 2020 |
