Andreas Janecke

Research interests

Publications

• Variants in CPA1 are strongly associated with early onset chronic pancreatitis

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2730

• Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2406

• Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.749

• Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

  American Journal Of Pathology · 2011 · https://doi.org/10.1016/j.ajpath.2011.01.053

• Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

  Journal of Clinical Investigation · 2011 · https://doi.org/10.1172/jci43639

• Eculizumab for Atypical Hemolytic–Uremic Syndrome

  New England Journal of Medicine · 2009 · https://doi.org/10.1056/nejmc0808527

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.413

• Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

  The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2008.05.001

• MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.225

• Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

  Nature Genetics · 2007 · https://doi.org/10.1038/ng2020

• Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

  European Journal of Medical Genetics · 2005 · https://doi.org/10.1016/j.ejmg.2005.04.015

• GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/497996

• Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/427563

• Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1394

• p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

  The American Journal of Human Genetics · 2001 · https://doi.org/10.1086/323123

Current projects

No projects listed.