Hilde Van Esch

Overview

Best Publications

• Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

  Hilde Van Esch;Marijke Bauters;Jaakko Ignatius;Mieke Jansen

  696
  Citations

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  678
  Citations

• GATA3 haplo-insufficiency causes human HDR syndrome.

  H Van Esch;P Groenen;M A Nesbit;S Schuffenhauer

  624
  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

• Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

  Arvid Suls;Peter Dedeken;Karolien Goffin;Hilde Van Esch

  392
  Citations

• Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

  Jiong Tao;Hilde Van Esch;M. Hagedorn-Greiwe;Kirsten Hoffmann

  365
  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

• Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

  Ender Karaca;Tamar Harel;Davut Pehlivan;Shalini N. Jhangiani

  300
  Citations

• Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

  Karine Poirier;Karine Poirier;David A. Keays;Fiona Francis;Fiona Francis;Yoann Saillour;Yoann Saillour

  264
  Citations

• Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

  Maila Giannandrea;Veronica Bianchi;Maria Lidia Mignogna;Alessandra Sirri

  262
  Citations

• Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

  Guido Froyen;Mark Corbett;Joke Vandewalle;Irma Jarvela;Irma Jarvela

  245
  Citations

• Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

  Guido Froyen;Hilde Van Esch;Marijke Bauters;Karen Hollanders

  244
  Citations

• KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

  Jean-Baptiste Rivière;Siriram Ramalingam;Valérie Lavastre;Masoud Shekarabi

  208
  Citations

• MECP2 Duplication Syndrome.

  Hilde Van Esch

  189
  Citations

• Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

  Asif Ali;Paul T. Christie;Irina V. Grigorieva;Brian Harding

  175
  Citations

• Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

  Dorien Lugtenberg;Tjitske Kleefstra;Astrid R. Oudakker;Willy M. Nillesen

  171
  Citations

• Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

  Frauke Coppieters;Ingele Casteels;Françoise Meire;Sarah De Jaegere

  165
  Citations

• Paroxysmal exercise-induced dyskinesia and epilepsy due to mutations in SLC2A1, encoding the glucose transporter, Gluti

  David Cassiman;A Suls;P Dedeken;Karolien Goffin

  2
  Citations

• Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | NOVA. The University of Newcastle's Digital Repository

  Guy Froyen;Mark Corbett;Jamel Chelly;Damien Sanlaville

  0
  Citations