Andreas Janecke - Concepedia

Author

Andreas Janecke

Also Known As

A Janecke, A R Janecke, A. Janecke, A. R. Janecke, A.R. Janecke, ANDREAS R JANECKE, Andreas Janecke, Andreas R Janecke, Andreas R. Janecke, Andreas Robert Janecke

10K

Publications

17.5K

Citations

H-Index

154

Concepts

All Affiliations

Innsbruck Medical University Universität Innsbruck Medical University of Vienna Inserm Medical University of Graz

About

Andreas Janecke is an author at Innsbruck Medical University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	41	69	6.8K
2	Arts	5	5	782
3	Natural Sciences	5	5	511
4	Health Sciences	3	3	101
5	Engineering	2	2	144

Andreas Janecke

127

Publications

10.7K

Citations

H-Index

Page 1

	Year	Citations
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema Aileen Sandilands, Ana Terron-Kwiatkowski, Peter Hull, Nature Genetics AllergyAtopic DermatitisGenetic DisorderGeneticsPathogenesis	2007	660
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, The American Journal of Human Genetics Genetic DisorderGeneticsAudiologyGenetic EpidemiologyGjb2 Mutations	2005	551
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, The American Journal of Human Genetics Eec SyndromeDevelopmental BiologyGenetic DisorderGeneticsPathology	2001	376
Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation Lars Riff Jensen, M Amende, Ulf Gurok, The American Journal of Human Genetics ChromatinTranscriptional RegulationGenome InstabilityJarid1c GeneChromatin Remodeling	2005	374
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity Thomas Müller, Michael W. Hess, Natalia Schiefermeier-Mach, Nature Genetics Disease MechanismPathogenesisPathologyCell-matrix InteractionInborn Error Of Immunity	2008	370
Variants in CPA1 are strongly associated with early onset chronic pancreatitis Heiko Witt, Sebastian Beer, Jonas Rosendahl, Nature Genetics Pancreatic CancerPancreatic Fluid CollectionGenetic EpidemiologyGastroenterologyPathology	2013	299
Mutations in PYCR1 cause cutis laxa with progeroid features Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou, Nature Genetics BiologyPlant BiologyGeneticsPathogenesisPlant Pathology	2009	252
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy Andreas Janecke, Debra A. Thompson, Gerd Utermann, Nature Genetics Photoreceptor CellMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease	2004	244
Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function Robert Gruber, Peter M. Elias, Debra Crumrine, American Journal Of Pathology BiologySkin DevelopmentGeneticsPathogenesisFilaggrin Genotype	2011	234
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht, The American Journal of Human Genetics	2008	219

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