Christine Fauth
Innsbruck Medical University(AT)Universität Innsbruck(AT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Genomics and Chromatin Dynamics, Genomics and Rare Diseases
Most-Cited Works
- → Three-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes(2005)833 cited
- → Nuclear Organization of Mammalian Genomes(1999)297 cited
- Targeted inactivation of p53 in human cells does not result in aneuploidy.(2002)
- → Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile(2009)160 cited
- → Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss(2012)158 cited
- → Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10(2010)149 cited
- → Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation