Assaying the Effects of Splice Site Variants by Exon Trapping in a Mammalian Cell Line

Por Tompson, Stuart W., Young, Terri L.
Publicado no Bio Protoc (2017)

Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders()

Por Weinstein, Michael M., Tompson, Stuart W., Chen, Yuqing, Lee, Brendan, Cohn, Daniel H.
Publicado em 2014

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Por Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Publicado em 2012

Exome Sequence Analysis of 14 Families With High Myopia

Por Kloss, Bethany A., Tompson, Stuart W., Whisenhunt, Kristina N., Quow, Krystina L., Huang, Samuel J., Pavelec, Derek M., Rosenberg, Thomas, Young, Terri L.
Publicado no Invest Ophthalmol Vis Sci (2017)

Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2

Por Tompson, Stuart W., Faqeih, Eissa Ali, Ala-Kokko, Leena, Hecht, Jacqueline T., Miki, Rika, Funari, Tara, Funari, Vincent A., Nevarez, Lisette, Krakow, Deborah, Cohn, Daniel H.
Publicado em 2012

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Por Tompson, Stuart W., Merriman, Barry, Funari, Vincent A., Fresquet, Maryline, Lachman, Ralph S., Rimoin, David L., Nelson, Stanley F., Briggs, Michael D., Cohn, Daniel H., Krakow, Deborah
Publicado em 2009

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Por Ruiz-Perez, Victor L., Tompson, Stuart W. J., Blair, Helen J., Espinoza-Valdez, Cecilia, Lapunzina, Pablo, Silva, Elias O., Hamel, Ben, Gibbs, John L., Young, Ian D., Wright, Michael J., Goodship, Judith A.
Publicado em 2003

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Por Tompson, Stuart W., Bacino, Carlos A., Safina, Nicole P., Bober, Michael B., Proud, Virginia K., Funari, Tara, Wangler, Michael F., Nevarez, Lisette, Ala-Kokko, Leena, Wilcox, William R., Eyre, David R., Krakow, Deborah, Cohn, Daniel H.
Publicado em 2010

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Por Souma, Tomokazu, Tompson, Stuart W., Thomson, Benjamin R., Siggs, Owen M., Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N., Maurer-Stroh, Sebastian, Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W., Kloss, Bethany, Burdon, Kathryn P., Mackey, David A., Allen, Keri F., Ruddle, Jonathan B., Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L., Pasutto, Francesca, Craig, Jamie E., Jin, Jing, Quaggin, Susan E., Young, Terri L.
Publicado no J Clin Invest (2016)