Tjitske Kleefstra

Overview

Best Publications

• Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

  Joep de Ligt;Marjolein H. Willemsen;Bregje W. M. van Bon;Tjitske Kleefstra

  1986
  Citations

• Genome sequencing identifies major causes of severe intellectual disability

  Christian Gilissen;Jayne Y. Hehir-Kwa;Djie Tjwan Thung;Maartje van de Vorst

  1228
  Citations

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

  Stefan H Lelieveld;Margot R F Reijnders;Rolph Pfundt;Helger G Yntema

  464
  Citations

• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser

  422
  Citations

• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

  Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  421
  Citations

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

  Céline Helsmoortel;Anneke T Vulto-van Silfhout;Bradley P Coe;Geert Vandeweyer

  360
  Citations

• Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

  Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  331
  Citations

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

  Korinna Kochinke;Christiane Zweier;Bonnie Nijhof;Michaela Fenckova

  322
  Citations

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

  B W M van Bon;H C Mefford;B Menten;D A Koolen

  314
  Citations

• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

  Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  304
  Citations

• X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

  H. Hu;S. A. Haas;J. Chelly;J. Chelly;H. Van Esch

  297
  Citations

• Disruption of an EHMT1-Associated Chromatin- Modification Module Causes Intellectual Disability

  Tjitske Kleefstra;Jamie M. Kramer;Kornelia Neveling;Marjolein H. Willemsen

  279
  Citations

• A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

  Lisenka E.L.M. Vissers;Kirsten J.M. Van Nimwegen;Jolanda H. Schieving;Erik Jan Kamsteeg

  249
  Citations

• High prevalence of SLC6A8 deficiency in X-linked mental retardation

  Efraim H. Rosenberg;Ligia S. Almeida;Tjitske Kleefstra;Rose S. deGrauw

  244
  Citations

• Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

  Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  237
  Citations

• Further clinical and molecular delineation of the 9q Subtelomeric Deletion Syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

  T Kleefstra;W A van Zelst-Stams;W M Nillesen;V Cormier-Daire

  234
  Citations

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  225
  Citations

• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

  Karlien L.M. Coene;Ronald Roepman;Dan Doherty;Bushra Afroze

  221
  Citations

• Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

  T. Kleefstra;M. Smidt;M.J.G. Banning;A.R. Oudakker

  219
  Citations

• Update on Kleefstra Syndrome

  M.H. Willemsen;A.T. Vulto-van Silfhout;W.M. Nillesen;W.M. Wissink-Lindhout

  191
  Citations