Joep de Ligt
机构: Lead Data @ Hartwig Medical Foundation (NL)
每年引用次数
引用次数
引用: 14,668
H-指数: 46
I10-指数 : 68
出版物: 88
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Marjoleine F. Broekema , Maarten P. G. Massink , Joep De Ligt , Edwin C. A. Stigter
Frontiers in Physiology 9 1363
6
2018
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Jayne Y Hehir-Kwa , Tobias Marschall , Wigard P Kloosterman , Laurent C Francioli
Nature Communications 7 ( 1) 12989 -12989
91
2016
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Terry Vrijenhoek , Ken Kraaijeveld , Martin Elferink , Joep De Ligt
European Journal of Human Genetics 23 ( 9) 1142 -1150
52
2015
NR2F1 mutations cause optic atrophy with intellectual disability.
Daniëlle GM Bosch , F Nienke Boonstra , Claudia Gonzaga-Jauregui , Mafei Xu
American Journal of Human Genetics 94 ( 2) 303 -309
63
2014
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
Anneke T Vulto-van Silfhout , Shivakumar Rajamanickam , Philip J Jensik , Sarah Vergult
American Journal of Human Genetics 94 ( 5) 649 -661
52
2014
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
Andy Itsara , Lisenka ELM Vissers , Karyn Meltz Steinberg , Kevin J Meyer
American Journal of Human Genetics 90 ( 4) 599 -613
19
2012
A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity
Norman Sachs , Joep De Ligt , Oded Kopper , Ewa Gogola
Cell 172 ( 1-2) 373 -386.e10
1,098
2018
Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles.
Sander C Steenbeek , Thang V Pham , Joep Ligt , Anoek Zomer
The EMBO Journal 37 ( 15) 5
28
2018
Long-term expanding human airway organoids for disease modeling
Norman Sachs , Angelos Papaspyropoulos , Domenique D Zomer‐van Ommen , Inha Heo
The EMBO Journal 38 ( 4) 1
534
2019
Deficiency of global genome nucleotide excision repair explains mutational signature observed in cancer
Sander Boymans , Francis Blokzijl , Jan Hoeijmakers , Joris Pothof
bioRxiv 221168
4
2017
Identification of novel human Wnt target genes using adult endodermal tissue-derived organoids.
Hans Clevers , Joep de Ligt , Gijs van Son , Inha Heo
Developmental Biology 474 37 -47
15
2021
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 during Border Quarantine and Air Travel, New Zealand (Aotearoa).
Jemma L. Geoghegan , Joep de Ligt , Craig Thornley , Xiaoyun Ren
Emerging Infectious Diseases 27 ( 5) 1274 -1278
5
2021
Use of Genomics to Track Coronavirus Disease Outbreaks, New Zealand.
Olin K Silander , Jemma L Geoghegan , Nikki E Freed , Joep de Ligt
Emerging Infectious Diseases 27 ( 5) 1317 -1322
2
2021
Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.
Jarno Drost , Ruben Van Boxtel , Francis Blokzijl , Tomohiro Mizutani
Science 358 ( 6360) 234 -238
182
2017
Point mutations as a source of de novo genetic disease.
Joep de Ligt , Joris A Veltman , Lisenka ELM Vissers
Current Opinion in Genetics & Development 23 ( 3) 257 -263
37
2013
Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA
Karen Buysse , Joep de Ligt , Irene M. Janssen , Bregje W. M. van Bon
Prenatal Diagnosis 34 ( 4) 402 -405
2
2014
Genomic landscape of rat strain and substrain variation
Roel Hermsen , Joep de Ligt , Wim Spee , Francis Blokzijl
BMC Genomics 16 ( 1) 357 -357
65
2015
Toward effective software solutions for big biology
Pjotr Prins , Joep de Ligt , Artem Tarasov , Ritsert C Jansen
Nature Biotechnology 33 ( 7) 686 -687
24
2015
Next-generation genetic testing for retinitis pigmentosa.
Kornelia Neveling , Rob WJ Collin , Christian Gilissen , Ramon AC Van Huet
Human Mutation 33 ( 6) 963 -972
219
2012
An emergent clade of SARS-CoV-2 linked to returned travellers from Iran
John-Sebastian Eden , Rebecca Rockett , Ian Carter , Hossinur Rahman
Virus Evolution 6 ( 1)
79
2020