Tjitske Kleefstra

Tjitske Kleefstra publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Tjitske Kleefstra sits on this spectrum.

Tjitske Kleefstra D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Tjitske Kleefstra sits on this spectrum.

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