Diagnostic exome sequencing in persons with severe intellectual disability J De Ligt, MH Willemsen, BWM Van Bon, T Kleefstra, HG Yntema, T Kroes, ... New England Journal of Medicine 367 (20), 1921-1929, 2012 | 1838 | 2012 |
A living biobank of breast cancer organoids captures disease heterogeneity N Sachs, J De Ligt, O Kopper, E Gogola, G Bounova, F Weeber, ... Cell 172 (1), 373-386. e10, 2018 | 1754 | 2018 |
Long-term culture of genome-stable bipotent stem cells from adult human liver M Huch, H Gehart, R Van Boxtel, K Hamer, F Blokzijl, MMA Verstegen, ... Cell 160 (1), 299-312, 2015 | 1607 | 2015 |
A de novo paradigm for mental retardation LELM Vissers, J de Ligt, C Gilissen, I Janssen, M Steehouwer, P de Vries, ... Nature genetics 42 (12), 1109-1112, 2010 | 989 | 2010 |
Tissue-specific mutation accumulation in human adult stem cells during life F Blokzijl, J De Ligt, M Jager, V Sasselli, S Roerink, N Sasaki, M Huch, ... Nature 538 (7624), 260-264, 2016 | 949 | 2016 |
Long‐term expanding human airway organoids for disease modeling N Sachs, A Papaspyropoulos, DD Zomer‐van Ommen, I Heo, L Böttinger, ... The EMBO journal 38 (4), e100300, 2019 | 914 | 2019 |
Whole-genome sequence variation, population structure and demographic history of the Dutch population Nature genetics 46 (8), 818-825, 2014 | 739 | 2014 |
Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer J Drost, R Van Boxtel, F Blokzijl, T Mizutani, N Sasaki, V Sasselli, J de Ligt, ... Science 358 (6360), 234-238, 2017 | 456 | 2017 |
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ... Cell 159 (1), 200-214, 2014 | 433 | 2014 |
Genome-wide patterns and properties of de novo mutations in humans LC Francioli, PP Polak, A Koren, A Menelaou, S Chun, I Renkens, ... Nature genetics 47 (7), 822-826, 2015 | 428 | 2015 |
Mapping and phasing of structural variation in patient genomes using nanopore sequencing M Cretu Stancu, MJ Van Roosmalen, I Renkens, MM Nieboer, ... Nature communications 8 (1), 1326, 2017 | 406 | 2017 |
Next‐generation genetic testing for retinitis pigmentosa K Neveling, RWJ Collin, C Gilissen, RAC Van Huet, L Visser, MP Kwint, ... Human mutation 33 (6), 963-972, 2012 | 349 | 2012 |
The Genome of the Netherlands: design, and project goals DI Boomsma, C Wijmenga, EP Slagboom, MA Swertz, LC Karssen, ... European journal of human genetics 22 (2), 221-227, 2014 | 337 | 2014 |
Global disparities in SARS-CoV-2 genomic surveillance AF Brito, E Semenova, G Dudas, GW Hassler, CC Kalinich, MUG Kraemer, ... Nature communications 13 (1), 7003, 2022 | 262 | 2022 |
Genetic dissection of colorectal cancer progression by orthotopic transplantation of engineered cancer organoids A Fumagalli, J Drost, SJE Suijkerbuijk, R Van Boxtel, J De Ligt, ... Proceedings of the National Academy of Sciences 114 (12), E2357-E2364, 2017 | 260 | 2017 |
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects MH Willemsen, LEL Vissers, MAAP Willemsen, BWM van Bon, T Kroes, ... Journal of medical genetics 49 (3), 179-183, 2012 | 204 | 2012 |
Tracking the international spread of SARS-CoV-2 lineages B. 1.1. 7 and B. 1.351/501Y-V2 with grinch Á O'Toole, V Hill, OG Pybus, A Watts, II Bogoch, K Khan, JP Messina, ... Wellcome Open Research 6, 121, 2021 | 203 | 2021 |
Novel genetic causes for cerebral visual impairment DGM Bosch, FN Boonstra, N de Leeuw, R Pfundt, WM Nillesen, J de Ligt, ... European Journal of Human Genetics 24 (5), 660-665, 2016 | 185 | 2016 |
Characteristics of de novo structural changes in the human genome WP Kloosterman, LC Francioli, F Hormozdiari, T Marschall, JY Hehir-Kwa, ... Genome research 25 (6), 792-801, 2015 | 161 | 2015 |
Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates … BHW Faas, J de Ligt, I Janssen, AJ Eggink, LDE Wijnberger, ... Expert Opinion on Biological Therapy 12 (sup1), S19-S26, 2012 | 159 | 2012 |