Author pages are created from data sourced from our academic publisher partnerships and public sources.
- Publications
- Influence
Share This Author
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- A. Rauch, D. Wieczorek, T. Strom
- MedicineThe Lancet
- 10 November 2012
Germline KRAS mutations cause Noonan syndrome
- Suzanne Schubbert, M. Zenker, C. Kratz
- Biology, MedicineNature Genetics
- 12 February 2006
TLDR
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
TLDR
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
- A. Rauch, J. Hoyer, U. Trautmann
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 1 October 2006
TLDR
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- S. Endele, G. Rosenberger, K. Kutsche
- BiologyNature Genetics
- 1 November 2010
TLDR
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental…
- F. Pasutto, H. Sticht, A. Rauch
- Medicine, BiologyAmerican journal of human genetics
- 1 March 2007
TLDR
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
- Rachel Soemedi, I. Wilson, B. Keavney
- BiologyAmerican journal of human genetics
- 7 September 2012
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
- C. Zweier, E. D. de Jong, A. Rauch
- BiologyAmerican journal of human genetics
- 13 November 2009
...
1
2
3
4
5
...