Nicole Revençu
Researcher Next ID · RN-039769
Researcher · Biochemistry, Genetics and Molecular Biology
Cliniques Universitaires Saint-Luc
Brussels, Belgium
- Works count
- 638
- Citation count
- 5,119
- H-index
- 36
- i10-index
- 71
Research interests
Publications
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature · 2024 · https://doi.org/10.1038/s41586-024-07773-7
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Human Molecular Genetics · 2014 · https://doi.org/10.1093/hmg/ddu002
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
European Journal of Human Genetics · 2011 · https://doi.org/10.1038/ejhg.2011.220
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Nature Genetics · 2010 · https://doi.org/10.1038/ng.581
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations
Human Mutation · 2008 · https://doi.org/10.1002/humu.20746
Current projects
No projects listed.