A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Autor: Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., D’Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., 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., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Pena, Loren DM., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison

Publikováno v: In Genetics in Medicine January 2019 21(1):161-172

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Autor: Pena, Loren D.M., Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel S.G., del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Bostwick, Bret L., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Hanchard, Neil A., Jain, Mahim, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Azamian, Mashid S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Zhang, Jing, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Jiang, Yong-hui, Walley, Nicole M., Beggs, Alan H., Briere, Lauren C., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Ramoni, Rachel B., Splinter, Kimberly, Bick, David P., Birch, Camille L., Boone, Braden E., Brown, Donna M., Dorset, Daniel C., Handley, Lori H., Jacob, Howard J., Jones, Angela L., Lazar, Jozef, Levy, Shawn E., Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Worthey, Elizabeth A., Dayal, Jyoti G., Eckstein, David J., Gould, Sarah E., Howerton, Ellen M., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., Urv, Tiina K., Wise, Anastasia L., Soldatos, Ariane G., Brush, Matthew, Gourdine, Jean-Philippe F., Haendel, Melissa, Koeller, David M., Kyle, Jennifer E., Metz, Thomas O., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Ashley, Euan A., Bernstein, Jonathan A., Dries, Annika M., Fisher, Paul G., Kohler, Jennefer N., Waggott, Daryl M., Wheeler, Matthew T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell'Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Dorrani, Naghmeh, Douine, Emilie D., Eskin, Ascia, Fogel, Brent L., Herzog, Matthew R., Lee, Hane, Lipson, Allen, Loo, Sandra K., Martínez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Zheng, Allison, Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary G., Groden, Catherine A., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Levy, Denise J., Liebendorfer, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Yu, Guoyun, Gropman, Andrea L., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Lee, Paul R., Postlethwait, John H., Westerfield, Monte, Bican, Anna, Cogan, Joy D., Hamid, Rizwan, Newman, John H., Phillips, John A., III, Robertson, Amy K.

Publikováno v: In Genetics in Medicine April 2018 20(4):464-469

A Genomic-Systems Biology Map for Cardiovascular Function

Autor: Stoll, Monika, Cowley, Allen W., Tonellato, Peter J., Greene, Andrew S., Kaldunski, Mary L., Roman, Richard J., Dumas, Pierre, Schork, Nicholas J., Wang, Zhitao, Jacob, Howard J.

Publikováno v: Science, 2001 Nov . 294(5547), 1723-1726.

Externí odkaz: https://www.jstor.org/stable/3085303

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Antithrombin III/SerpinC1 insufficiency exacerbates renal ischemia/reperfusion injury

Autor: Wang, Feng ^*, Zhang, Guangyuan, Lu, Zeyuan, Geurts, Aron M., Usa, Kristie, Jacob, Howard J., Cowley, Allen W., Wang, Niansong, Liang, Mingyu ^*

Publikováno v: In Kidney International October 2015 88(4):796-803