Charlotte W. Ockeloen
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Autism Spectrum Disorder Research
Most-Cited Works
- → Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study(2010)290 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP(2018)178 cited
- → Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders(2016)166 cited
- → Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings(2013)145 cited
- → The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome(2018)132 cited