Caroline Rooryck
Centre Hospitalier Universitaire de Bordeaux(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases
Most-Cited Works
- → CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations(2019)466 cited
- → Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities(2015)292 cited
- → Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome(2011)257 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome(2014)175 cited
- → Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome(2011)163 cited
- → Molecular characterization of a series of 990 index patients with albinism(2018)146 cited
- → The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome(2018)132 cited
- → De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder(2017)108 cited
- → FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations(2019)107 cited