Joep de Ligt
Joep de Ligt
Lead - Bioinformatics and Genomics @ ESR, NZ
Geverifieerd e-mailadres voor esr.cri.nz
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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
12532012
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
7882010
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 (1-2), 299-312, 2015
6832015
Whole-genome sequence variation, population structure and demographic history of the Dutch population
LC Francioli, A Menelaou, SL Pulit, F Van Dijk, PF Palamara, CC Elbers, ...
Nature genetics 46 (8), 818, 2014
5062014
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
4102016
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 (1-2), 373-386. e10, 2018
3952018
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
2762015
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
2752012
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
2392014
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
2152014
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
1692017
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
1362012
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
MC Stancu, MJ Van Roosmalen, I Renkens, MM Nieboer, S Middelkamp, ...
Nature communications 8 (1), 1-13, 2017
1342017
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
1122012
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
1052019
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
1022015
Detection of clinically relevant copy number variants with whole‐exome sequencing
J de Ligt, PM Boone, R Pfundt, LELM Vissers, T Richmond, J Geoghegan, ...
Human mutation 34 (10), 1439-1448, 2013
952013
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
P Deelen, A Menelaou, EM Van Leeuwen, A Kanterakis, F Van Dijk, ...
European Journal of Human Genetics 22 (11), 1321-1326, 2014
932014
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
902016
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
802017
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Artikelen 1–20