Hilde Van Esch

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 54 Citations 9,675 245 World Ranking 2898 National Ranking 42

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.
American Journal of Human Genetics (2005)

641 Citations

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

Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley.
Nature Genetics (2009)

632 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.
American Journal of Human Genetics (2005)

383 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.
American Journal of Human Genetics (2006)

371 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.
Brain (2008)

362 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.
American Journal of Human Genetics (2004)

337 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.
Human Mutation (2007)

243 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.
American Journal of Human Genetics (2010)

239 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.
Human Mutation (2007)

237 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.
American Journal of Human Genetics (2008)

228 Citations

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Hilde Van Esch

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

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