Nicole de Leeuw
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → Diagnostic Genome Profiling in Mental Retardation(2005)604 cited
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism(2006)470 cited
- → Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome