Jane Hartley

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Philip L. Beales, Elizabeth Bland, Jonathan L. Tobin et al. · Nature Genetics · 2007 · 335 citations

Organelle Dynamic, Genetics, Autophagy +10

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter, Albane A. Bizet, Miriam Schmidts et al. · The American Journal of Human Genetics · 2013 · 225 citations · Full text

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Sterling Eckard, Gillian Rice, Alexandre Fabre et al. · Nature Immunology · 2014 · 193 citations · Full text

Skiv2l Rna, Signal Transduction, Rna Structure Prediction +7

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Jane Hartley, Nicholas C. Zachos, Ban B. Dawood et al. · Gastroenterology · 2010 · 151 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +8

Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger et al. · Human Mutation · 2013 · 137 citations · Full text

Skeletal Ciliopathies, Genetics, Pathology +17