Anne Destrèe

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling et al. · Nature Genetics · 2012 · 262 citations · Full text

Medicine, Cardiology, Cardiovascular Genetics +10

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 218 citations

Life Sciences, Genetics, Molecular Genetics +14

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

David A. Koolen, Andrew J. Sharp, Jane A. Hurst et al. · Journal of Medical Genetics · 2008 · 217 citations

Life Sciences, Genetics, Molecular Genetics +14

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17