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Items: 5

Select item 44869721.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Kristin Kessler, Ina Wunderlich, Steffen Uebe, Nathalie S. Falk, Andreas Gießl, Johann Helmut Brandstätter, Bernt Popp, Patricia Klinger, Arif B. Ekici, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Ronald Roepman, Eva Seemanová, Christian T. Thiel

Sci Rep. 2015; 5: 11649. Published online 2015 Jul 1. doi: 10.1038/srep11649

PMCID:: PMC4486972

Abstract Article PDF–1.3M

Select item 44703322.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Paige Taylor, Tiago J. Dantas, Ivan Duran, Sulin Wu, Ralph S. Lachman, University of Washington Center for Mendelian Genomics, Stanley F. Nelson, Daniel H. Cohn, Richard B. Vallee, Deborah Krakow

Nat Commun. Author manuscript; available in PMC 2015 Dec 16.

Published in final edited form as: Nat Commun. 2015; 6: 7092. Published online 2015 Jun 16. doi: 10.1038/ncomms8092

PMCID:: PMC4470332

Abstract Article PDF–1.8M

Select item 5402773.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405