Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

BACKGROUND: Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally u...

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Published in:Genome Med
Main Authors: Middelkamp, Sjors, van Heesch, Sebastiaan, Braat, A. Koen, de Ligt, Joep, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J. E., Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke E., Ippel, Elly F., Adolfs, Youri, Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin
Format: Artigo
Language:Inglês
Published: BioMed Central 2017
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5270341/
https://ncbi.nlm.nih.gov/pubmed/28126037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0399-z
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