Search Results - Penney, Samantha

Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis by Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population by Gonzaga-Jauregui, Claudia, Gamble, Candace N, Yuan, Bo, Penney, Samantha, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Hecht, Jacqueline T

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Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia by Gonzaga-Jauregui, Claudia, Mir, Sabina, Penney, Samantha, Jhangiani, Shalini, Midgen, Craig, Finegold, Milton, Muzny, Donna M., Wang, Min, Bacino, Carlos A., Gibbs, Richard A., Lupski, James R., Kellermayer, Richard, Hanchard, Neil A.

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Secondary findings and carrier test frequencies in a large multiethnic sample by Gambin, Tomasz, Jhangiani, Shalini N., Below, Jennifer E., Campbell, Ian M., Wiszniewski, Wojciech, Muzny, Donna M., Staples, Jeffrey, Morrison, Alanna C., Bainbridge, Matthew N., Penney, Samantha, McGuire, Amy L., Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric

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Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly by Gonzaga-Jauregui, Claudia, Lotze, Timothy, Jamal, Leila, Penney, Samantha, Campbell, Ian M., Pehlivan, Davut, Hunter, Jill V., Woodbury, Suzanne L., Raymond, Gerald, Adesina, Adekunle M., Jhangiani, Shalini N., Reid, Jeffrey G., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Gibbs, Richard A., Wiszniewski, Wojciech

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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome by Wangler, Michael F., Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Penney, Samantha, Moss, Timothy, Chopra, Atul, Probst, Frank J., Xia, Fan, Yang, Yaping, Werlin, Steven, Eglite, Ieva, Kornejeva, Liene, Bacino, Carlos A., Baldridge, Dustin, Neul, Jeff, Lehman, Efrat Lev, Larson, Austin, Beuten, Joke, Muzny, Donna M., Jhangiani, Shalini, Gibbs, Richard A., Lupski, James R., Beaudet, Arthur

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome by White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.

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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea by Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.

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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death by Eldomery, Mohammad K., Akdemir, Zeynep C., Vögtle, F.-Nora, Charng, Wu-Lin, Mulica, Patrycja, Rosenfeld, Jill A., Gambin, Tomasz, Gu, Shen, Burrage, Lindsay C., Al Shamsi, Aisha, Penney, Samantha, Jhangiani, Shalini N., Zimmerman, Holly H., Muzny, Donna M., Wang, Xia, Tang, Jia, Medikonda, Ravi, Ramachandran, Prasanna V., Wong, Lee-Jun, Boerwinkle, Eric, Gibbs, Richard A., Eng, Christine M., Lalani, Seema R., Hertecant, Jozef, Rodenburg, Richard J., Abdul-Rahman, Omar A., Yang, Yaping, Xia, Fan, Wang, Meng C., Lupski, James R., Meisinger, Chris, Sutton, V. Reid

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A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases by Yamamoto, Shinya, Jaiswal, Manish, Charng, Wu-Lin, Gambin, Tomasz, Karaca, Ender, Mirzaa, Ghayda, Wiszniewski, Wojciech, Sandoval, Hector, Haelterman, Nele A., Xiong, Bo, Zhang, Ke, Bayat, Vafa, David, Gabriela, Li, Tongchao, Chen, Kuchuan, Gala, Upasana, Harel, Tamar, Pehlivan, Davut, Penney, Samantha, Vissers, Lisenka E. L. M., de Ligt, Joep, Jhangiani, Shalini, Xie, Yajing, Tsang, Stephen H., Parman, Yesim, Sivaci, Merve, Battaloglu, Esra, Muzny, Donna, Wan, Ying-Wooi, Liu, Zhandong, Lin-Moore, Alexander T., Clark, Robin D., Curry, Cynthia J., Link, Nichole, Schulze, Karen L., Boerwinkle, Eric, Dobyns, William B., Allikmets, Rando, Gibbs, Richard A., Chen, Rui, Lupski, James R., Wangler, Michael F., Bellen, Hugo J.

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Lessons learned from additional research analyses of unsolved clinical exome cases by Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.

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COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis by Watkin, Levi B., Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie L. P., Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa, Law, Christopher S., Stray-Petersen, Asbjørg, Cheng, Mickie H., Mace, Emily M., Anderson, Mark S., Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K., Nahmod, Karen, Makedonas, George, Canter, Debra, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D., Penney, Samantha, Jhangiani, Shalini N., Rosenblum, Michael D., Dell, Sharon D., Waterfield, Michael R., Papa, Feroz R., Muzny, Donna M., Zaitlen, Noah, Leal, Suzanne M., Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N. Tony, Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Shum, Anthony K.

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