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 | 732 | 2020 |
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 | 602 | 2015 |
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 | 395 | 2021 |
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 | 298 | 2009 |
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 | 111 | 2021 |
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 | 111 | 2021 |
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 100 | 2022 |
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 | 94 | 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 | 89 | 2017 |
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 | 88 | 2022 |
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 | 87 | 2022 |
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 | 87 | 2019 |
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 | 83 | 2022 |
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 | 82 | 2020 |
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), 655, 2020 | 82 | 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 | 78 | 2021 |
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 | 70 | 2020 |
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 | 69 | 2021 |
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 | 68 | 2021 |
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 | 58 | 2020 |