Nicole de Leeuw

Nicole de Leeuw 2018Nicole de Leeuw is head of the theme Intellectual Disability & Congenital Anomalies. She is specialized in clinical cytogenetics and the diagnostic application of genome wide SNP array analysis.


The Intellectual Disability & Congenital Anomalies (ID & CA) team exists of three clinical laboratory geneticists, three senior technicians, nine laboratory technicians and a database manager.

This team uses a wide variety of techniques and methods to efficiently identify the cause of a patient’s disorder and to unravel the underlying mechanism. In addition to genome wide SNP array analysis using the Affymetrix CytoScan® High-Density array platform and gene specific analysis by Sanger sequencing, new technologies such as the IonTorrent and Whole Exome Sequencing (WES; sequencing the coding regions of more than 21,000 human genes) are routinely used to reach this goal. By applying WES to patients with severe intellectual disability and their unaffected parents, followed by an in-house developed data-analysis procedure to each trio, we can identify de novo, autosomal recessive, and X-linked mutations that are causative for the clinical phenotype of the patient.
In this way, numerous genetic aberrations, including single nucleotide mutations, copy number variants (CNVs), uniparental disomies and mosaic aberrations can be detected in a fast and reliable way.
Our team also has special expertise in the detection of CNVs in WES data (Rolph Pfundt, PhD) and the genetic causes of Noonan syndrome (Helger Yntema, PhD). Nicole de Leeuw (PhD) is coordinator of the ECARUCA database (

Our team

Our team consists of passionate and experienced people


Ms. Helger Yntema, PhD Head Genome Diagnostics, clinical laboratory geneticist
Marcel Nelen, PhD Deputy head Genome Diagnostics, Head team Core Genome Analysis Laboratory, clinical laboratory geneticist
Erik-Jan Kamsteeg, PhD Head team Muscular, Neurological, Renal & Sensory disorders, clinical laboratory geneticist
Dominique Smeets, PhD Head team Fertility & Pregnancy, clinical laboratory geneticist
Ms. Nicole de Leeuw, PhD Head team Intellectual Disability, Multiple Congenital Abnormalities & Endocrine disorders, clinical laboratory geneticist
Ms. Marjolijn Ligtenberg, PhD Head team Laboratory Tumor Genetics, associate professor Tumor Genetics, clinical laboratory geneticist
Lisenka Vissers, PhD Head team Translational Genomics, molecular geneticist
Hans Scheffer, PhD Associate professor clinical molecular genetics, clinical laboratory geneticist
Ms. Brigitte Faas, PhD Clinical laboratory geneticist
Rolph Pfundt, PhD Clinical laboratory geneticist
Ms. Marian Stevens-Kroef, PhD Clinical laboratory geneticist
Ms. Annet Simons, PhD Clinical laboratory geneticist
Arjen Mensenkamp, PhD Clinical laboratory geneticist
Ms. Daniel Olde Weghuis, PhD Clinical cytogeneticist
Ms. Tuula Rinne, PhD Clinical laboratory geneticist
Ms. Dorien Lugtenberg, PhD Clinical laboratory geneticist
Christian Gilissen, PhD Bioinformatician
Ms. Kornelia Neveling, PhD Molecular geneticist