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Dimitris Polychronopoulos
Dimitris Polychronopoulos
Head of Discovery @Ochre Bio
Verified email at ochre-bio.com - Homepage
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Cited by
Cited by
Year
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
7232020
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
6072015
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
3852021
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
2992009
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
1112021
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
1112021
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
K Ibaņez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ...
The Lancet Neurology 21 (3), 234-245, 2022
982022
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
932020
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
912017
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
902019
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
R Jayadev, MRPT Morais, JM Ellingford, S Srinivasan, RW Naylor, ...
Science Advances 8 (20), eabn2265, 2022
892022
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
SR Senum, YSM Li, KA Benson, G Joli, E Olinger, S Lavu, CD Madsen, ...
The American Journal of Human Genetics 109 (1), 136-156, 2022
842022
UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
DJ Thompson, D Wells, S Selzam, I Peneva, R Moore, K Sharp, ...
MedRxiv, 2022.06. 16.22276246, 2022
822022
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
822020
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), 655, 2020
802020
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
752021
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
692020
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
682021
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
L Wang, D Aschenbrenner, Z Zeng, X Cao, D Mayr, M Mehta, M Capitani, ...
Nature genetics 53 (4), 500-510, 2021
662021
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
542020
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