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

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

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

by 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.
Published in Adv Exp Med Biol (2018)

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

by 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.
Published 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

by 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.
Published in Invest Ophthalmol Vis Sci (2017)

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

by 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.
Published in Invest Ophthalmol Vis Sci (2014)

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

by 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
Published in Am J Hum Genet (2020)