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Dr. Christine Fauth

Specialist
Medical Genetics, Molecular and Clinical Pharmacology
Innsbruck Medical University
Austria

Academician Genetics
Biography

Dr. Christine Fauth is currently serving as the senior practitioner in the Department of Human Genetics in Innsbruck Medical University, Innsbruck. She has about 108 research items in research gate and about 4 research interests in following topics: Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families; The Genetic Architecture of Microphthalmia, Anophthalmia and Coloboma; How can a genomic missense mutation effect or reduce mRNA expression; Classification of pediatric vascular lesions

Research Intrest

Genetics Cancer Biology Next Generation Sequencing Human Genetics Human Molecular Genetics Cytogenetics Clinical Genetics Molecular Medicine

List of Publications
Rauchenzauner M, Frühwirth M, Hecht M, Kofler M, Witsch-Baumgartner M, Fauth C. A Novel variant in the HINT1 gene in a girl with autosomal recessive axonal neuropathy with neuromyotonia: thorough neurological examination gives the clue. Neuropediatrics. 2016 Apr;47(02):119-22.
Wimmer K, Beilken A, Nustede R, Ripperger T, Lamottke B, Ure B, Steinmann D, Reineke-Plaass T, Lehmann U, Zschocke J, Valle L. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Familial cancer. 2017 Jan 1;16(1):67-71.
Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS. A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine. 2017 Jun 15.
Experts in Austria
Claude Becker Youssef Belkhadir Frederic Berger Wolfgang Busch Armin Djamei Ortrun Mittelsten Scheid Michael Nodine Magnus Nordborg Yasin Dagdas Steve K. Chai Meinrad Busslinger Tim Clausen Luisa Cochella Wulf Haubensak Prof.(FH) Mag. Dr. Harald Hundsberger Prof.(FH) Priv.Doz. Mag. Dr. Andreas Ege Prof.(FH) Priv.Doz. Mag. Dr. Andreas Ege Prof.(FH) Dr. Barbara Entler Nico Jacobi, MSc Prof.(FH) DI Bernhard Klausgraber Prof.(FH) Dr. Christian Klein Prof.(FH) Mag. Dana Mezricky Dipl.Biol. Maren Pflüger, PhD Dr. Mohammad Ahmadi Prof.(FH) DI Dominik Schild View More