J
Joep de Ligt
Researcher at Wellington Management Company
Publications - 76
Citations - 9792
Joep de Ligt is an academic researcher from Wellington Management Company. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 34, co-authored 69 publications receiving 7454 citations. Previous affiliations of Joep de Ligt include University Medical Center Utrecht & Utrecht University.
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Journal ArticleDOI
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt,Marjolein H. Willemsen,Bregje W.M. van Bon,Tjitske Kleefstra,Helger G. Yntema,Thessa Kroes,Anneke T. Vulto-van Silfhout,David A. Koolen,Petra de Vries,Christian Gilissen,Marisol del Rosario,Alexander Hoischen,Hans Scheffer,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman,Lisenka E.L.M. Vissers +16 more
TL;DR: De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
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Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver
Meritxell Huch,Helmuth Gehart,Ruben van Boxtel,Karien Hamer,Francis Blokzijl,Monique M A Verstegen,Ewa Ellis,Martien van Wenum,Sabine A. Fuchs,Joep de Ligt,Marc van de Wetering,Nobuo Sasaki,Susanne J. Boers,Hans Kemperman,Jeroen de Jonge,Jan N. M. IJzermans,Edward E. S. Nieuwenhuis,Ruurdtje Hoekstra,Stephen C. Strom,Robert R G Vries,Luc J. W. van der Laan,Edwin Cuppen,Hans Clevers +22 more
TL;DR: Conditions allowing long-term expansion of adult bile duct-derived bipotent progenitor cells from human liver opens up experimental avenues for disease modeling, toxicology studies, regenerative medicine, and gene therapy.
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A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity
Norman Sachs,Joep de Ligt,Oded Kopper,Ewa Gogola,Gergana Bounova,Fleur Weeber,Anjali Vanita Balgobind,Karin Wind,Ana Gracanin,Harry Begthel,Jeroen Korving,Ruben van Boxtel,Alexandra A. Duarte,Daphne Lelieveld,Arne Van Hoeck,Robert F Ernst,Francis Blokzijl,Isaac J. Nijman,Marlous Hoogstraat,Marieke van der Ven,David A. Egan,Vittoria Zinzalla,Jürgen Moll,Sylvia F. Boj,Emile E. Voest,Lodewyk F. A. Wessels,Lodewyk F. A. Wessels,Paul J. van Diest,Sven Rottenberg,Sven Rottenberg,Robert G.J. Vries,Edwin Cuppen,Hans Clevers +32 more
TL;DR: This study describes a representative collection of well-characterized BC organoids available for cancer research and drug development, as well as a strategy to assess in vitro drug response in a personalized fashion.
Journal ArticleDOI
A de novo paradigm for mental retardation.
Lisenka E.L.M. Vissers,Joep de Ligt,Christian Gilissen,Irene M. Janssen,Marloes Steehouwer,Petra de Vries,Bart van Lier,Peer Arts,Nienke Wieskamp,Marisol del Rosario,Bregje W.M. van Bon,Alexander Hoischen,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman +14 more
TL;DR: This work identified and validated unique non-synonymous de novo mutations in nine genes and identified six likely to be pathogenic based on gene function, evolutionary conservation and mutation impact that could explain the majority of all mental retardation cases in the population.
Journal ArticleDOI
Tissue-specific mutation accumulation in human adult stem cells during life
Francis Blokzijl,Joep de Ligt,Myrthe Jager,Valentina Sasselli,Sophie Roerink,Nobuo Sasaki,Meritxell Huch,Sander Boymans,Ewart W. Kuijk,Pjotr Prins,Isaac J. Nijman,Inigo Martincorena,Michal Mokry,Caroline L. Wiegerinck,Sabine Middendorp,Toshiro Sato,Gerald Schwank,Edward E. S. Nieuwenhuis,Monique M A Verstegen,Luc J. W. van der Laan,Jeroen de Jonge,Jan N. M. IJzermans,Robert G.J. Vries,Marc van de Wetering,Michael R. Stratton,Hans Clevers,Edwin Cuppen,Ruben van Boxtel +27 more
TL;DR: This work determines genome-wide mutation patterns in ASCs of the small intestine, colon and liver of human donors with ages ranging from 3 to 87 years by sequencing clonal organoid cultures derived from primary multipotent cells.