Lipoarabinomannan in sputum to detect bacterial load and treatment response in patients with pulmonary tuberculosis: Analytic validation and evaluation in two cohorts

von Kawasaki, Masanori, Echiverri, Carmenchu, Raymond, Lawrence, Cadena, Elizabeth, Reside, Evelyn, Gler, Maria Tarcela, Oda, Tetsuya, Ito, Ryuta, Higashiyama, Ryo, Katsuragi, Kiyonori, Liu, Yongge
Veröffentlicht in PLoS Med (2019)

Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)

von Daiger, Stephen P., Bowne, Sara J., Sullivan, Lori S., Branham, Kari, Wheaton, Dianna K., Jones, Kaylie D., Avery, Cheryl E., Cadena, Elizabeth D., Heckenlively, John R., Birch, David G.
Veröffentlicht in Adv Exp Med Biol (2018)

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

von Daiger, Stephen P., Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Blanton, Susan H., Wheaton, Dianna K., Avery, Cheryl E., Cadena, Elizabeth D., Koenekoop, Robert K., Fulton, Robert S., Wilson, Richard K., Weinstock, George M., Lewis, Richard A., Birch, David G.
Veröffentlicht in Adv Exp Med Biol (2016)

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

von Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Cadena, Elizabeth L., Heckenlively, John R., Branham, Kari E., Wheaton, Dianna H., Jones, Kaylie D., Ruiz, Richard S., Pennesi, Mark E., Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V., Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G., Daiger, Stephen P.
Veröffentlicht in Invest Ophthalmol Vis Sci (2017)

A Dominant Mutation in Hexokinase 1 (HK1) Causes Retinitis Pigmentosa

von Sullivan, Lori S., Koboldt, Daniel C., Bowne, Sara J., Lang, Steven, Blanton, Susan H., Cadena, Elizabeth, Avery, Cheryl E., Lewis, Richard A., Webb-Jones, Kaylie, Wheaton, Dianna H., Birch, David G., Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K., Garcia, Charles A., Fulton, Robert S., Wilson, Richard K., Weinstock, George M., Daiger, Stephen P.
Veröffentlicht in Invest Ophthalmol Vis Sci (2014)

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

von Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand
Veröffentlicht in Am J Hum Genet (2020)