Tjitske Kleefstra
University of Bonn(DE)Radboud University Nijmegen(NL)Erasmus MC(NL)Radboud University Medical Center(NL)Vincent Van Gogh Voor Geestelijke Gezondheidszorg(NL)International Platform of Registered Systematic Review and Meta-analysis Protocols(CH)Erasmus University Rotterdam(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Epigenetics and DNA Methylation
Most-Cited Works
- → Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability(2012)1,570 cited
- → Genome sequencing identifies major causes of severe intellectual disability(2014)1,130 cited
- → Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability(2016)460 cited
- → Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome(2006)395 cited
- → Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation(2005)374 cited
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited