Janna Nousbeck

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Dana Fuchs‐Telem, Ofer Sarig, Maurice A. M. Van Steensel et al. · The American Journal of Human Genetics · 2012 · 264 citations · Full text

Life Sciences, Dermatology, Genetics +8

CEDNIK syndrome results from loss-of-function mutations in SNAP29

Dana Fuchs‐Telem, Helen Stewart, David Rapaport et al. · British Journal of Dermatology · 2010 · 85 citations

Life Sciences, Dermatology, Genetics +7

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

Shirli Israeli, Dana Fuchs‐Telem, Janna Nousbeck et al. · The American Journal of Human Genetics · 2011 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

Janna Nousbeck, Ronen Spiegel, Akemi Ishida‐Yamamoto et al. · The American Journal of Human Genetics · 2008 · 74 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia

Janna Nousbeck, Bettina Burger, Dana Fuchs‐Telem et al. · The American Journal of Human Genetics · 2011 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6