Concepedia

Caroline Rooryck

CR

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Publications

95

Citations

5.8K

H-Index

43

Active since

2004

Affiliations

Centre Hospitalier Universitaire de Bordeaux(Current)

Inserm

Université de Bordeaux

Maladies Rares: Génétique et Métabolisme

Assistance Publique – Hôpitaux de Paris

Caroline Rooryck is an author at Centre Hospitalier Universitaire de Bordeaux specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2004–2024

95

Publications

95

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 480 citations · Full text

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CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Grégoire Cullot, Julian Boutin, Jérôme Toutain et al. · Nature Communications · 2019 · 480 citations · Full text

, , +17

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Debra D’Angelo, Sébastien Lebon, Qixuan Chen et al. · JAMA Psychiatry · 2015 · 296 citations · Full text

, , +17

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn et al. · Nature Genetics · 2011 · 263 citations

, , +12

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

, , +17

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