Concepedia
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Publications
17
Citations
1.7K
H-Index
Active since
2005
Affiliations
Radboud University Nijmegen(Current)
Radboud University Medical Center
Inserm
Centre National de la Recherche Scientifique
University of Washington
Tjitske Kleefstra is an author at Radboud University Nijmegen specializing in genetics, life sciences, and genetic disorders.
Publications per year
2005–2021
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations
Life Sciences, Genetics, Molecular Genetics +17
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier et al. · Molecular Psychiatry · 2015 · 207 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
Chromosome 1p21.3 microdeletions comprising <i>DPYD</i> and <i>MIR137</i> are associated with intellectual disability
Marjolein H. Willemsen, Astrid Vallès, Laurens A. M. H. Kirkels et al. · Journal of Medical Genetics · 2011 · 205 citations
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text
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