Stephanie Bielas

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas et al. · The American Journal of Human Genetics · 2008 · 395 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +10

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 303 citations · Full text

Is Mutated, Genetics, Glycobiology +3

Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa

Mrinal K. Sarkar, Grace A. Hile, Lam C. Tsoi et al. · Annals of the Rheumatic Diseases · 2018 · 260 citations

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa et al. · Science Translational Medicine · 2012 · 256 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +18