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 · 260 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +4

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

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

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

Developmental Anomaly, Developmental Biology, Genetic Disorder +5

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 · 73 citations · Full text

Chromatin, Ribosome Biogenesis, Neurological Defects +6

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 · 70 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +9