Caroline Rooryck
University of Bordeaux
Publications 82
#1Grégoire Cullot (French Institute of Health and Medical Research)H-Index: 1
#2Julian Boutin (French Institute of Health and Medical Research)H-Index: 1
Last.Aurélie BedelH-Index: 5
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CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. We demonstrate that homology-directed repair is rare compared with NHEJ pathway leading to on-target indels and causing unwanted dysfunctional protein. Moreover, we describe unexpected chromosomal truncations resulting from only one Cas9 nuclease-induced DSB in cell lines and primary cells by a p53-de...
9 CitationsSource
#1Anne-Claude TabetH-Index: 12
#2Thomas Rolland (Pasteur Institute)H-Index: 5
Last.Thomas Bourgeron (Pasteur Institute)H-Index: 56
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2 CitationsSource
#2Sandra JansenH-Index: 6
Last.Gijs W.E. SantenH-Index: 21
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The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article.
2 CitationsSource
#1L. Allach El Khattabi (Paris V: Paris Descartes University)H-Index: 1
#2S. BrunH-Index: 1
Last.Caroline Rooryck (University of Bordeaux)H-Index: 23
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2 CitationsSource
#2Fanny Morice-PicardH-Index: 18
Last.Aurélien Trimouille (University of Bordeaux)H-Index: 1
view all 13 authors...
1 CitationsSource
#1Eline P J van der Sluijs (LUMC: Leiden University Medical Center)H-Index: 1
#2Sandra Jansen (Radboud University Nijmegen)H-Index: 6
Last.Gijs W.E. Santen (LUMC: Leiden University Medical Center)H-Index: 21
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Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel...
4 CitationsSource
#1Karine Nguyen (AMU: Aix-Marseille University)H-Index: 15
#2Stéphane Roche (AMU: Aix-Marseille University)H-Index: 23
Last.Gilbert HabibcH-Index: 66
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#1Karine NguyenH-Index: 15
#2Stéphane RocheH-Index: 23
Last.Gilbert HabibcH-Index: 66
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#1Marguerite Hureaux (Necker-Enfants Malades Hospital)H-Index: 1
#2Sarah Guterman (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 1
Last.François Vialard (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 20
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1 CitationsSource
#1Aurélien Trimouille (University of Bordeaux)H-Index: 1
#2Angèle Tingaud-Sequeira (University of Bordeaux)H-Index: 15
Last.Caroline Rooryck (University of Bordeaux)H-Index: 23
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The organization of mammalian genomes into sub-megabase sized Topologically Associated Domains (TADs) has recently been revealed by techniques derived from Chromosome Conformation Capture (3 C), such as High Chromosome Contact map (Hi-C). Disruption of this organization by structural variations can lead to ectopic interactions between enhancers and promoters, and to alteration of genes expression patterns. This mechanism has already been described as the main pathophysiological mechanism in seve...