Sandra Janssens
Université Libre de Bruxelles(BE)Ghent University Hospital(BE)Erasmus Hospital(BE)Ghent University(BE)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Neurofibromatosis and Schwannoma Cases, Genomic variations and chromosomal abnormalities, Cystic Fibrosis Research Advances, Congenital heart defects research
Most-Cited Works
- → Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome(2009)370 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Responsible implementation of expanded carrier screening(2016)325 cited
- → Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848(2017)205 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited