Nienke Wieskamp
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Phylogenetic Studies, Retinal Development and Disorders
Most-Cited Works
- → A de novo paradigm for mental retardation(2010)851 cited
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases(2013)338 cited
- → Next‐generation genetic testing for retinitis pigmentosa(2012)284 cited
- → Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy(2010)231 cited
- → Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders(2016)196 cited
- → Cantú Syndrome Is Caused by Mutations in ABCC9(2012)166 cited
- → Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia(2010)147 cited
- → Massively parallel sequencing of ataxia genes after array-based enrichment(2010)105 cited
- → Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications(2022)55 cited