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

ανά Tompson, Stuart W., Young, Terri L.
Τόπος έκδοσης Bio Protoc (2017)

Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders()

ανά Weinstein, Michael M., Tompson, Stuart W., Chen, Yuqing, Lee, Brendan, Cohn, Daniel H.
Έκδοση 2014

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

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

Exome Sequence Analysis of 14 Families With High Myopia

ανά Kloss, Bethany A., Tompson, Stuart W., Whisenhunt, Kristina N., Quow, Krystina L., Huang, Samuel J., Pavelec, Derek M., Rosenberg, Thomas, Young, Terri L.
Τόπος έκδοσης Invest Ophthalmol Vis Sci (2017)

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

ανά 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.
Έκδοση 2012

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

ανά 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
Έκδοση 2009

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome

ανά Tompson, Stuart W., Johnson, Charles, Abbott, Diana, Bakall, Benjamin, Soler, Vincent, Yanovitch, Tammy L., Whisenhunt, Kristina N., Klemm, Thomas, Rozen, Steve, Stone, Edwin M., Johnson, Max, Young, Terri L.
Τόπος έκδοσης Ophthalmic Genet (2017)

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

ανά 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.
Έκδοση 2003

In-utero epigenetic factors are associated with early-onset myopia in young children

ανά Seow, Wei Jie, Ngo, Cheryl S., Pan, Hong, Barathi, Veluchamy Amutha, Tompson, Stuart W., Whisenhunt, Kristina N., Vithana, Eranga, Chong, Yap-Seng, Juo, Suh-Hang H., Hysi, Pirro, Young, Terri L., Karnani, Neerja, Saw, Seang Mei
Τόπος έκδοσης PLoS One (2019)

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

ανά 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.
Έκδοση 2010

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

ανά Thomson, Benjamin R., Souma, Tomokazu, Tompson, Stuart W., Onay, Tuncer, Kizhatil, Krishnakumar, Siggs, Owen M., Feng, Liang, Whisenhunt, Kristina N., Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Tanna, Christine E., Hewitt, Alex W., Mackey, David A., Bradfield, Yasmin S., Souzeau, Emmanuelle, Javadiyan, Shari, Wiggs, Janey L., Pasutto, Francesca, Liu, Xiaorong, John, Simon W.M., Craig, Jamie E., Jin, Jing, Young, Terri L., Quaggin, Susan E.
Τόπος έκδοσης J Clin Invest (2017)

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium

ανά Wong, Yee-Ling, Hysi, Pirro, Cheung, Gemmy, Tedja, Milly, Hoang, Quan V., Tompson, Stuart W. J., Whisenhunt, Kristina N., Verhoeven, Virginie, Zhao, Wanting, Hess, Moritz, Wong, Chee-Wai, Kifley, Annette, Hosoda, Yoshikatsu, Haarman, Annechien E. G., Hopf, Susanne, Laspas, Panagiotis, Sensaki, Sonoko, Sim, Xueling, Miyake, Masahiro, Tsujikawa, Akitaka, Lamoureux, Ecosse, Ohno-Matsui, Kyoko, Nickels, Stefan, Mitchell, Paul, Wong, Tien-Yin, Wang, Jie Jin, Hammond, Christopher J., Barathi, Veluchamy A., Cheng, Ching-Yu, Yamashiro, Kenji, Young, Terri L., Klaver, Caroline C. W., Saw, Seang-Mei
Τόπος έκδοσης PLoS One (2019)

Correction: Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium

ανά Wong, Yee-Ling, Hysi, Pirro, Cheung, Gemmy, Tedja, Milly, Hoang, Quan V., Tompson, Stuart W. J., Whisenhunt, Kristina N., Verhoeven, Virginie J. M., Zhao, Wanting, Hess, Moritz, Wong, Chee-Wai, Kifley, Annette, Hosoda, Yoshikatsu, Haarman, Annechien E. G., Hopf, Susanne, Laspas, Panagiotis, Sensaki, Sonoko, Sim, Xueling, Miyake, Masahiro, Tsujikawa, Akitaka, Lamoureux, Ecosse, Ohno-Matsui, Kyoko, Nickels, Stefan, Mitchell, Paul, Wong, Tien-Yin, Wang, Jie Jin, Hammond, Christopher J., Barathi, Veluchamy A., Cheng, Ching-Yu, Yamashiro, Kenji, Young, Terri L., Klaver, Caroline C. W., Saw, Seang-Mei
Τόπος έκδοσης PLoS One (2019)

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

ανά Young, Terri L., Whisenhunt, Kristina N., Jin, Jing, LaMartina, Sarah M., Martin, Sean M., Souma, Tomokazu, Limviphuvadh, Vachiranee, Suri, Fatemeh, Souzeau, Emmanuelle, Zhang, Xue, Dan, Yongwook, Anagnos, Evie, Carmona, Susana, Jody, Nicole M., Stangel, Nickie, Higuchi, Emily C., Huang, Samuel J., Siggs, Owen M., Simões, Maria José, Lawson, Brendan M., Martin, Jacob S., Elahi, Elahe, Narooie-Nejad, Mehrnaz, Motlagh, Behzad Fallahi, Quaggin, Susan E., Potter, Heather D., Silva, Eduardo D., Craig, Jamie E., Egas, Conceição, Maroofian, Reza, Maurer-Stroh, Sebastian, Bradfield, Yasmin S., Tompson, Stuart W.
Τόπος έκδοσης Invest Ophthalmol Vis Sci (2020)

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

ανά 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.
Τόπος έκδοσης J Clin Invest (2016)

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

ανά Tedja, Milly S., Wojciechowski, Robert, Hysi, Pirro G., Eriksson, Nicholas, Furlotte, Nicholas A., Verhoeven, Virginie J.M., Iglesias, Adriana I., Meester-Smoor, Magda A., Tompson, Stuart W., Fan, Qiao, Khawaja, Anthony P., Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B., Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J., Klein, Barbara E.K., Klein, Ronald, Paterson, Andrew D., Hosseini, S. Mohsen, Shah, Rupal L., Williams, Cathy, Teo, Yik Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E., Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F., Joshi, Peter K., Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N., Zeller, Tanja, van der Spek, Peter J., Haak, Roxanna, Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M., Iyengar, Sudha K., Lass, Jonathan H., Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, André G., Vingerling, Johannes R., Lehtimäki, Terho, Raitakari, Olli T., Biino, Ginevra, Concas, Maria Pina, Schwantes-An, Tae-Hwi, Igo, Robert P., Cuellar-Partida, Gabriel, Martin, Nicholas G., Craig, Jamie E., Gharahkhani, Puya, Williams, Katie M., Nag, Abhishek, Rahi, Jugnoo S., Cumberland, Phillippa M., Delcourt, Cécile, Bellenguez, Céline, Ried, Janina S., Bergen, Arthur A., Meitinger, Thomas, Gieger, Christian, Wong, Tien Yin, Hewitt, Alex W., Mackey, David A., Simpson, Claire L., Pfeiffer, Norbert, Pärssinen, Olavi, Baird, Paul N., Vitart, Veronique, Amin, Najaf, van Duijn, Cornelia M., Bailey-Wilson, Joan E., Young, Terri L., Saw, Seang-Mei, Stambolian, Dwight, MacGregor, Stuart, Guggenheim, Jeremy A., Tung, Joyce Y., Hammond, Christopher J., Klaver, Caroline C.W.
Τόπος έκδοσης Nat Genet (2018)