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Tjitske Kleefstra | Researchclopedia

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Tjitske Kleefstra

University of Bonn ORCID

363

Works

19,081

Citations

73

h-index

207

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

Netherlands Institute for Neuroscience2016–2021

University of Bonn2025–2025

University of Wisconsin–Madison2022–2022

Radboud University Nijmegen2000–2025

University of Leicester2021–2021

Top Works

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt,Marjolein H. Willemsen,et al.

20121,570 citations

Congenital heart defects research

Epigenetics and DNA Methylation

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen,Jayne Y. Hehir‐Kwa,et al.

20141,131 citations

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Stefan H. Lelieveld,Margot R.F. Reijnders,et al.

2016460 citations

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra,Han G. Brunner,et al.

2006395 citations

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen,M Amende,et al.

2005374 citations

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel,Anneke T. Vulto-van Silfhout,et al.

2014371 citations

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon,Heather C. Mefford,et al.

2009370 citations

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

Korinna Kochinke,Christiane Zweier,et al.

2016351 citations

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok,Erik Madsen,et al.

2015332 citations