Erik A. Sistermans
University Medical Center(US)Amsterdam University Medical Centers(NL)Center for Human Reproduction(US)Amsterdam University of Applied Sciences(NL)Vrije Universiteit Amsterdam(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Fetal and Pediatric Neurological Disorders, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Germline KRAS mutations cause Noonan syndrome(2006)738 cited
- → Diagnostic Genome Profiling in Mental Retardation(2005)604 cited
- → Guidelines for diagnostic next-generation sequencing(2015)513 cited
- → A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism(2006)470 cited
- → Erratum: Guidelines for diagnostic next-generation sequencing(2016)423 cited
- → Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome(2006)395 cited
- → TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands