Andreas Janecke

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 et al. · Nature Genetics · 2007 · 664 citations

Life Sciences, Genetics, Molecular Genetics +14

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

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 et al. · The American Journal of Human Genetics · 2001 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas Müller, Michael W. Hess, Natalia Schiefermeier-Mach et al. · Nature Genetics · 2008 · 377 citations

Life Sciences, Cell Biology, Genetics +10

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 et al. · The American Journal of Human Genetics · 2005 · 376 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10