Birgit Krabichler

A survey of tools for variant analysis of next-generation genome sequencing data

Stephan Pabinger, Andreas Dander, M. Fischer et al. · Briefings in Bioinformatics · 2013 · 609 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad et al. · The American Journal of Human Genetics · 2014 · 154 citations · Full text

Life Sciences, Biochemistry, Genetics +13

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat et al. · Nature Communications · 2016 · 143 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

Munis Dündar, Thomas Müller, Qi Zhang et al. · The American Journal of Human Genetics · 2009 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4