Dana Fuchs‐Telem

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

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (<i>MRPS22</i>) mutation

Ann Saada, Avraham Shaag, Shmuel Arnon et al. · Journal of Medical Genetics · 2007 · 158 citations · Full text

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz et al. · The American Journal of Human Genetics · 2009 · 97 citations · Full text

Cutis Laxa, Pathology, Dermatology +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