Vera M. Kalscheuer

Vera M. Kalscheuer 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 Vera M. Kalscheuer sits on this spectrum.

Vera M. Kalscheuer 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 Vera M. Kalscheuer sits on this spectrum.

Overview

Best Publications

• Deep sequencing reveals 50 novel genes for recessive cognitive disorders

  Hossein Najmabadi;Hao Hu;Masoud Garshasbi;Tomasz Zemojtel

  1052
  Citations

• Germline KRAS mutations cause Noonan syndrome

  Suzanne Schubbert;Martin Zenker;Sara L . Rowe;Silke Böll

  853
  Citations

• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

  Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  572
  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

• 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

• Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

  Vera M. Kalscheuer;Jiong Tao;Andrew Donnelly;Georgina Hollway

  362
  Citations

• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

  Thierry Bienvenu;Karine Poirier;Gaelle Friocourt;Nadia Bahi

  349
  Citations

• Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

  Frederic Laumonnier;Nathalie Ronce;Ben C.J. Hamel;Paul Thomas

  336
  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

• 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

• The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans.

  Vera M. Kalscheuer;Edwin C. Mariman;Marga T. Schepens;Helga Rehder

  296
  Citations

• CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

  Sara Ricciardi;Federica Ungaro;Melanie Hambrock;Nils Rademacher

  284
  Citations

• Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

  J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  283
  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

• Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

  Gabrielle Rosalie Anne-Ma Wilson;Joe Chou Hung Sim;Catriona Ann McLean;Maila Giannandrea

  235
  Citations

• Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

  Chayim Can Schell-Apacik;Kristina Wagner;Moritz Bihler;Birgit Ertl-Wagner

  230
  Citations

• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

  Hyung Goo Kim;Hyung Goo Kim;Hyung Goo Kim;Jang Won Ahn;Ingo Kurth;Reinhard Ullmann

  215
  Citations

• Genetics of intellectual disability in consanguineous families

  Hao Hu;Hao Hu;Kimia Kahrizi;Luciana Musante;Zohreh Fattahi

  207
  Citations

• Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

  Luciana Musante;Hans G. Kehl;Frank Majewski;Peter Meinecke

  207
  Citations

• The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

  Monika Grabowski;Alexander Zimprich;Bettina Lorenz-Depiereux;Vera Kalscheuer

  205
  Citations