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 · 660 citations

Allergy, Atopic Dermatitis, Genetic Disorder +11

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 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

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 · 376 citations · Full text

Eec Syndrome, Developmental Biology, Genetic Disorder +8

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 · 374 citations · Full text

Chromatin, Transcriptional Regulation, Genome Instability +14

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas Müller, Michael W. Hess, Natalia Schiefermeier-Mach et al. · Nature Genetics · 2008 · 370 citations

Disease Mechanism, Pathogenesis, Pathology +10