Jennifer L. Silhavy

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Jeong Ho Lee, My N. Huynh, Jennifer L. Silhavy et al. · Nature Genetics · 2012 · 689 citations · Full text

Molecular Neuroscience, Signal Transduction, Somatic Mutations +10

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 526 citations · Full text

Neurological Disorder, Genetics, Network Analysis +18

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 CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +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