Anita Rauch

发表

De novo mutations in the genome organizer CTCF cause intellectual disability.

Heinrich Sticht, Georgia Vasileiou, Juliane Hoyer, 2013, American journal of human genetics.

Rare Copy Number Variants Are a Common Cause of Short Stature

Dagmar Wieczorek, Juliane Hoyer, Arif B. Ekici, 2013, PLoS genetics.

Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

Manfred Lehner, Dan Holmberg, Boris Reizis, 2008, Cell.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Heinrich Sticht, Hanns Ulrich Zeilhofer, Yushi Inoue, 2019, Molecular Medicine.

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

Juliane Hoyer, Peter Nürnberg, André Reis, 2006, American journal of medical genetics. Part A.

Reply to Hochstenbach et al. 'Molecular karyotyping'.

J. Vermeesch, A. Rauch, Anita Rauch, 2006, European journal of human genetics : EJHG.

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Marc Gewillig, Rachel Soemedi, Koenraad Devriendt, 2012, American journal of human genetics.

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

Annette Schenck, Arif B Ekici, André Reis, 2009, American journal of human genetics.

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Andrea Klein, Barbara Plecko, S. Papuc, 2017, PloS one.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

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

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome

Udo Rolle, A. Rauch, C. Zweier, 2007, American journal of medical genetics. Part A.

Germline KRAS mutations cause Noonan syndrome

Kam Y. J. Zhang, Erik Sistermans, Kam Y J Zhang, 2006, Nature Genetics.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Dagmar Wieczorek, Juliane Hoyer, Ute Moog, 2009, European Journal of Human Genetics.

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

Heinrich Sticht, Barbara Plecko, Bernhard Schmitt, 2016, Journal of Inherited Metabolic Disease.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Andreas Busjahn, Jens Jordan, Herbert Schulz, 2015, Nature Genetics.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Georgia Ramantani, Fowzan S Alkuraya, William A Gahl, 2018, American journal of human genetics.

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

Robert Kleta, Bernd Wollnik, G. Usala, 2007, American journal of human genetics.

Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease

Denise Horn, Bernhard Weschke, D. Horn, 2004, American journal of medical genetics. Part A.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.