Anita Rauch

Summary

Country: Switzerland

Publications

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  2. doi Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
    Ralf Rauch
    Institute of Medical Genetics, Schorenstrasse 16, CH 8603 Zurich Schwerzenbach, Switzerland
    J Med Genet 47:321-31. 2010
  3. doi The shortest of the short: pericentrin mutations and beyond
    Anita Rauch
    Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach Zurich, Switzerland
    Best Pract Res Clin Endocrinol Metab 25:125-30. 2011
  4. pmc The clinical significance of small copy number variants in neurodevelopmental disorders
    Reza Asadollahi
    Institute of Medical Genetics, University of Zurich, Schlieren Zürich, Switzerland
    J Med Genet 51:677-88. 2014
  5. pmc Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
    Reza Asadollahi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Eur J Hum Genet 21:1100-4. 2013
  6. doi A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 164:1277-83. 2014
  7. doi High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
    Beatrice Oneda
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Prenat Diagn 34:525-33. 2014
  8. doi Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Med Genet A 161:1853-9. 2013

Collaborators

  • Deborah Bartholdi
  • Joris Andrieux
  • Christian T Thiel
  • Nicole Ochsenbein-Kölble
  • Andreas M E Koch
  • Pavel Krejci
  • Maria Kirchhoff
  • Christiane Zweier
  • Reza Asadollahi
  • Beatrice Oneda
  • Alessandra Baumer
  • Pascal Joset
  • Rosa Baldinger
  • Regina Reissmann
  • Katharina Steindl
  • Beatrice Latal
  • Silvia Azzarello-Burri
  • Andre Reis
  • Emilia K Bijlsma
  • Arif B Ekici
  • Anne Gregor
  • Juliane Hoyer
  • Ralf Rauch
  • Anne Dieux
  • Christian Breymann
  • Dunja Niedrist
  • Gundula Hebisch
  • Irene Sudholt
  • Roland Zimmermann
  • Denise Morotti
  • Elke Prentl
  • Rahim Masood
  • David Fitzpatrick
  • Margaret Hüsler
  • Marie Vincent
  • Barbara Plecko
  • Marzia Faranda
  • Oskar G Jenni
  • Joana Cobilanschi
  • Heinrich Sticht
  • Irina Reshetnikova
  • Josef Wisser
  • René Mueller
  • Susanne Ritter
  • Walter Knirsch
  • Frenny Sheth
  • Gunnar Houge
  • Soaham Desai
  • Reinhard Ullmann
  • Isabelle Maystadt
  • Jurgen Kohlhase
  • Jakub Klapecki
  • Eva Wohlleber
  • Denise Horn
  • Sigrid Tinschert
  • Beate Albrecht
  • Sandra Nagl
  • Hartmut Engels
  • Ingrid Bader
  • Eva Prott
  • Karl Hackmann
  • Geoffrey Woods
  • Helmut Singer
  • Stefan Zink
  • Michael Hofbeck
  • Udo Trautmann
  • Renate Kaulitz

Detail Information

Publications8

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  2. doi Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
    Ralf Rauch
    Institute of Medical Genetics, Schorenstrasse 16, CH 8603 Zurich Schwerzenbach, Switzerland
    J Med Genet 47:321-31. 2010
    ..In order to get further insight into genotype-phenotype correlation, a large cohort of 230 unselected patients with ToF was comprehensively investigated...
  3. doi The shortest of the short: pericentrin mutations and beyond
    Anita Rauch
    Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach Zurich, Switzerland
    Best Pract Res Clin Endocrinol Metab 25:125-30. 2011
    ..There is clinical overlap with the so called Seckel syndrome, a heterogeneous group of entities with at least four different gene loci known to date...
  4. pmc The clinical significance of small copy number variants in neurodevelopmental disorders
    Reza Asadollahi
    Institute of Medical Genetics, University of Zurich, Schlieren Zürich, Switzerland
    J Med Genet 51:677-88. 2014
    ..Despite abundant evidence for pathogenicity of large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs <500 kb has not been well elucidated in a clinical context...
  5. pmc Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
    Reza Asadollahi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Eur J Hum Genet 21:1100-4. 2013
    ..The clinical features suggesting a neurocristopathy may be explained by animal model studies indicating involvement of the Mediator complex subunit 13 in neural crest induction...
  6. doi A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 164:1277-83. 2014
    ..3 represents a novel clinically recognizable condition and that the microtubule severing gene KATNAL1 and the chromatin-associated gene HMGB1 are candidate genes for intellectual disability inherited in an autosomal dominant pattern...
  7. doi High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
    Beatrice Oneda
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Prenat Diagn 34:525-33. 2014
    ..The objective of this study was to determine for the first time the reliability and the diagnostic power of high-resolution microarray testing in routine prenatal diagnostics...
  8. doi Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria
    Deborah Bartholdi
    Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Med Genet A 161:1853-9. 2013
    ..In conclusion, we report the first patients with a homozygous 2p21 deletion syndrome without cystinuria and further delineate the complex genotype-phenotype correlations of homozygous microdeletion syndromes of this region...