Dimitris Polychronopoulos
Dimitris Polychronopoulos
Director of In Silico Biology @Ochre Bio
Verified email at - Homepage
Cited by
Cited by
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
E Calpena, A Cuellar, K Bala, SMA Swagemakers, N Koelling, ...
Genetics in Medicine 22 (9), 1498-1506, 2020
The system can't perform the operation now. Try again later.
Articles 1–20