Anita Rauch

Overview

Best Publications

• Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

  Anita Rauch;Dagmar Wieczorek;Elisabeth Graf;Thomas Wieland

  1163
  Citations

• Germline KRAS mutations cause Noonan syndrome

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

  853
  Citations

• Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

  Babacar Cisse;Michele L. Caton;Manfred Lehner;Takahiro Maeda

  762
  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

• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

  Anita Rauch;Juliane Hoyer;Sabine Guth;Christiane Zweier

  550
  Citations

• Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

  Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  456
  Citations

• Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

  Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  449
  Citations

• CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

  Christiane Zweier;Christiane Zweier;Eiko K. de Jong;Markus Zweier;Alfredo Orrico

  369
  Citations

• Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

  Christiane Zweier;Maarit M Peippo;Juliane Hoyer;Sergio Sousa

  349
  Citations

• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

  Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  348
  Citations

• Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

  Rachel Soemedi;Ian J. Wilson;Jamie Bentham;Rebecca Darlay

  336
  Citations

• Genotype-phenotype correlations in Noonan syndrome.

  Martin Zenker;Gernot Buheitel;Ralf Rauch;Rainer Koenig

  323
  Citations

• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  Alexander Hoischen;Bregje W M van Bon;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Christian Gilissen

  305
  Citations

• Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

  Juliane Hoyer;Arif B. Ekici;Sabine Endele;Bernt Popp

  287
  Citations

• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Ersan Kalay;Gökhan Yigit;Yakup Aslan;Karen E Brown

  263
  Citations

• Induction, binding specificity and function of human ICOS

  Katja C. Beier;Andreas Hutloff;Anna M. Dittrich;Christoph Heuck

  262
  Citations

• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

  D. A. Koolen;A. J. Sharp;A. J. Sharp;J. A. Hurst;H. V. Firth

  250
  Citations

• The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

  Fanny Kortüm;Soma Das;Max Flindt;Deborah J Morris-Rosendahl

  246
  Citations

• Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

  Christiane Zweier;Heinrich Sticht;Inci Aydin-Yaylagül;Christine E. Campbell

  239
  Citations