Vera M. Kalscheuer

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