Fate of pBR322 DNA in a wastewater matrix von WORTHEY, A. L, KANE, J. F, ORVOS, D. R

Volltext

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease von Worthey, Elizabeth A, Mayer, Alan N, Syverson, Grant D, Helbling, Daniel, Bonacci, Benedetta B, Decker, Brennan, Serpe, Jaime M, Dasu, Trivikram, Tschannen, Michael R, Veith, Regan L, Basehore, Monica J, Broeckel, Ulrich, Tomita-Mitchell, Aoy, Arca, Marjorie J, Casper, James T, Margolis, David A, Bick, David P, Hessner, Martin J, Routes, John M, Verbsky, James W, Jacob, Howard J, Dimmock, David P

Volltext

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease von Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A

Volltext

DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants von Samani, Adrienne, English, Katherine G., Lopez, Michael A., Birch, Camille L., Brown, Donna M., Kaur, Gurpreet, Worthey, Elizabeth A., Alexander, Matthew S.

Volltext

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder von Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya

Volltext

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome von Chen, Yin-Huai, Zastrow, Diane B., Metcalfe, Riley D., Gartner, Lisa, Krause, Freia, Morton, Craig J., Marwaha, Shruti, Fresard, Laure, Huang, Yong, Zhao, Chunli, McCormack, Colleen, Bick, David, Worthey, Elizabeth A., Eng, Christine M., Gold, Jessica, Undiagnosed Diseases Network, Montgomery, Stephen B., Fisher, Paul G., Ashley, Euan A., Wheeler, Matthew T., Parker, Michael W., Shanmugasundaram, Veerabahu, Putoczki, Tracy L., Schmidt-Arras, Dirk, Laurence, Arian, Bernstein, Jonathan A., Griffin, Michael D.W., Uhlig, Holm H.

Volltext

Genome Sequence of Trypanosoma cruzi, Etiologic Agent of Chagas Disease von El-Sayed, Najib M, Myler, Peter J, Bartholomeu, Daniella C, Nilsson, Daniel, Aggarwal, Gautam, Tran, Anh-Nhi, Ghedin, Elodie, Worthey, Elizabeth A, Delcher, Arthur L, Blandin, Gae̊lle, Westenberger, Scott J, Caler, Elisabet, Cerqueira, Gustavo C, Branche, Carole, Haas, Brian, Anupama, Atashi, Arner, Erik, Åslund, Lena, Attipoe, Philip, Bontempi, Esteban, Bringaud, Frédéric, Burton, Peter, Cadag, Eithon, Campbell, David A, Carrington, Mark, Crabtree, Jonathan, Darban, Hamid, da Silveira, Jose Franco, de Jong, Pieter, Edwards, Kimberly, Englund, Paul T, Fazelina, Gholam, Feldblyum, Tamara, Ferella, Marcela, Frasch, Alberto Carlos, Gull, Keith, Horn, David, Hou, Lihua, Huang, Yiting, Kindlund, Ellen, Klingbeil, Michele, Kluge, Sindy, Koo, Hean, Lacerda, Daniela, Levin, Mariano J, Lorenzi, Hernan, Louie, Tin, Machado, Carlos Renato, McCulloch, Richard, McKenna, Alan, Mizuno, Yumi, Mottram, Jeremy C, Nelson, Siri, Ochaya, Stephen, Osoegawa, Kazutoyo, Pai, Grace, Parsons, Marilyn, Pentony, Martin, Pettersson, Ulf, Pop, Mihai, Ramirez, Jose Luis, Rinta, Joel, Robertson, Laura, Salzberg, Steven L, Sanchez, Daniel O, Seyler, Amber, Sharma, Reuben, Shetty, Jyoti, Simpson, Anjana J, Sisk, Ellen, Tammi, Martti T, Tarleton, Rick, Teixeira, Santuza, Van Aken, Susan, Vogt, Christy, Ward, Pauline N, Wickstead, Bill, Wortman, Jennifer, White, Owen, Fraser, Claire M, Stuart, Kenneth D, Andersson, Björn

Volltext

Paleolithic Human Responses to Changing Aridity at Üçağızlı I cave, southern-coastal Turkey: Application of a Novel Carbon Isotope-Based Method von Worthey, Kayla B., Stiner, Mary C., Quade, Jay, Rowland, Jessica C., Açıkkol, Ayşen, Baykara, Ismail, Kuhn, Steven L.

Volltext

Hγ and Hδ Absorption Features in Stars and Stellar Populations von Worthey, Guy, Ottaviani, D. L

Volltext

P59 Generation and characterization of a novel XMEA mouse model and pharmacological evaluation of autophagy antagonists von Karuppasamy, M., English, K., Sanders, V., Lopez, M., Kaur, G., Worthey, L., Huang, L., Dowling, J., Alexander, M.

Volltext

Comparative Genomics of Trypanosomatid Parasitic Protozoa von El-Sayed, Najib M, Myler, Peter J, Blandin, Gae̊lle, Berriman, Matthew, Crabtree, Jonathan, Aggarwal, Gautam, Caler, Elisabet, Renauld, Hubert, Worthey, Elizabeth A, Hertz-Fowler, Christiane, Ghedin, Elodie, Peacock, Christopher, Bartholomeu, Daniella C, Haas, Brian J, Tran, Anh-Nhi, Wortman, Jennifer R, Alsmark, U. Cecilia M, Angiuoli, Samuel, Anupama, Atashi, Badger, Jonathan, Bringaud, Frederic, Cadag, Eithon, Carlton, Jane M, Cerqueira, Gustavo C, Creasy, Todd, Delcher, Arthur L, Djikeng, Appolinaire, Embley, T. Martin, Hauser, Christopher, Ivens, Alasdair C, Kummerfeld, Sarah K, Pereira-Leal, Jose B, Nilsson, Daniel, Peterson, Jeremy, Salzberg, Steven L, Shallom, Joshua, Silva, Joana C, Sundaram, Jaideep, Westenberger, Scott, White, Owen, Melville, Sara E, Donelson, John E, Andersson, Björn, Stuart, Kenneth D, Hall, Neil

Volltext

P181 Polygenic risk score and socioenvironmental factors predict early-onset lung disease in young children with cystic fibrosis von Huang, L., Lai, H., Song, J., Lu, Q., Murali, S., Brown, D., Worthey, E., Farrell, P.

Volltext

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research von Manolio, Teri A., Fowler, Douglas M., Starita, Lea M., Haendel, Melissa A., MacArthur, Daniel G., Biesecker, Leslie G., Worthey, Elizabeth, Chisholm, Rex L., Green, Eric D., Jacob, Howard J., McLeod, Howard L., Roden, Dan, Rodriguez, Laura Lyman, Williams, Marc S., Cooper, Gregory M., Cox, Nancy J., Herman, Gail E., Kingsmore, Stephen, Lo, Cecilia, Lutz, Cathleen, MacRae, Calum A., Nussbaum, Robert L., Ordovas, Jose M., Ramos, Erin M., Robinson, Peter N., Rubinstein, Wendy S., Seidman, Christine, Stranger, Barbara E., Wang, Haoyi, Westerfield, Monte, Bult, Carol

Volltext

Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome von Siegel, Dawn H., Shieh, Joseph T.C., Kwon, Eun-kyung, Baselga, Eulalia, Blei, Francine, Cordisco, Maria, Dobyns, William B., Duffy, Kelly J., Garzon, Maria C., Gibbs, David L., Grimmer, Johannes F., Hayflick, Susan J., Krol, Alfons L., Kwok, Pui-Yan, Lorier, Rachel, Matter, Andrea, McWeeney, Shannon, Metry, Denise, Mitchell, Sheri, Pope, Elena, Santoro, Jennifer L., Stevenson, David A., Bayrak-Toydemir, Pinar, Wilmot, Beth, Worthey, Elizabeth A., Frieden, Ilona J., Drolet, Beth A., Broeckel, Ulrich

Volltext

Good laboratory practice for clinical next-generation sequencing informatics pipelines von Gargis, Amy S, Kalman, Lisa, Bick, David P, da Silva, Cristina, Dimmock, David P, Funke, Birgit H, Gowrisankar, Sivakumar, Hegde, Madhuri R, Kulkarni, Shashikant, Mason, Christopher E, Nagarajan, Rakesh, Voelkerding, Karl V, Worthey, Elizabeth A, Aziz, Nazneen, Barnes, John, Bennett, Sarah F, Bisht, Himani, Church, Deanna M, Dimitrova, Zoya, Gargis, Shaw R, Hafez, Nabil, Hambuch, Tina, Hyland, Fiona C L, Luna, Ruth Ann, MacCannell, Duncan, Mann, Tobias, McCluskey, Megan R, McDaniel, Timothy K, Ganova-Raeva, Lilia M, Rehm, Heidi L, Reid, Jeffrey, Campo, David S, Resnick, Richard B, Ridge, Perry G, Salit, Marc L, Skums, Pavel, Wong, Lee-Jun C, Zehnbauer, Barbara A, Zook, Justin M, Lubin, Ira M

Volltext

ePS4.02 Whole-genome sequencing reveals that genetic variations predict effectiveness of vitamin D supplementation in young children with cystic fibrosis von Lai, H., Lu, Q., Chin, L., Wilk, M., Worthey, E.

Volltext

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 von Davids, Mariska, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Tifft, Cynthia, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Adams, Christopher J., Alejandro, Mercedes E., Ashley, Euan A., Barseghyan, Hayk, Beggs, Alan H., Bernstein, Jonathan A., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Golas, Gretchen A., Gould, Sarah E., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hanchard, Neil A., Herzog, Matthew R., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Jones, Angela L., Koehler, Alanna E., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Levy, Denise J., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Macnamara, Ellen F., MacRae, Calum A., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Mazur, Paul, McCarty, Alexandra J., McCray, Alexa T., Metz, Thomas O., Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Pallais, J. Carl, Palmer, Christina G.S., Pena, Loren D.M., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Soldatos, Ariane G., Splinter, Kimberly, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tift, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Vilain, Eric, Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matt T., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Yamamoto, Shinya, Malicdan, May Christine V.

Volltext

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative von Schoch, Kelly, Spillmann, Rebecca, Tan, Queenie K.-G., McConkie-Rosell, Allyn, Jiang, Yong-Hui, Goldstein, David B., Adams, David R., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Beggs, Alan H., Birch, Camille L., Bonner, Devon, Boone, Braden E., Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Goldstein, David B., Gourdine, Jean-Philippe F., Haendel, Melissa, Handley, Lori H., Krasnewich, Donna M., Krier, Joel B., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., McConkie-Rosell, Allyn, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina GS, Parker, Neil H., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Sampson, Jacinda B., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zhao, Chunli, Zheng, Allison

Volltext

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype von Pena, Loren D.M., Hempel, Maja, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Shuss, Christine M., Burrage, Lindsay C., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Lalani, Seema R., Lewis, Richard A., Posey, Jennifer E., Hanchard, Neil A., Mercedes, Alejandro E., Wangler, Michael F., Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Goldstein, David B., Loscalzo, Joseph, Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Worthey, Elizabeth A., Lazar, Joe, Handley, Lori H., Newberry, J. Scott, Schroeder, Molly C., Brown, Donna M., Levy, Shawn E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Wise, Anastasia L., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Iglesias, Brenda, Martin, Casey, Koeller, David M., Ashley, Euan A., Zornio, Patricia A., Nelson, Stan F., Palmer, Christina G.S., Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Papp, Jeanette C., Dorrani, Naghmeh, Draper, David D., Estwick, Tyra, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Johnston, Jean M., Latham, Lea, Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., McCarty, Alexandra J., Murphy, Jennifer L., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Wahl, Colleen E., Weech, Alec A., Yu, Guoyun, Hamid, Rizwan, Bellet, Jane S., Keels, Martha Ann, El-Dairi, Maysantoine, Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Kurki, Mitja I., Hoischen, Alexander, Goldstein, David B.

Volltext

Surface Brightness Fluctuations in the Hubble Space Telescope ACS/WFC F814W Bandpass and an Update on Galaxy Distances von Blakeslee, John P, Cantiello, Michele, Mei, Simona, Côté, Patrick, DeGraaff, Regina Barber, Ferrarese, Laura, Jordán, Andrés, Peng, Eric W, Tonry, John L, Worthey, Guy

Volltext