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Joep de Ligt
Joep de Ligt
Lead Data @ Hartwig Medical Foundation (NL)
Verified email at hartwigmedicalfoundation.nl
Title
Cited by
Cited by
Year
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
17302012
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
14462018
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
14332015
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
9562010
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
8762016
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
7572019
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics 46 (8), 818-825, 2014
7062014
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
4102017
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
4032015
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
3972014
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
3622017
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
3292012
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
3232014
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
2262017
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
1862012
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, 2021
1832021
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
1822022
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
1672016
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
1512015
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
1482012
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