Search Results - Christina C. Chang

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    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey by Cope, Heidi, Hoppman, Nicole, Rehder, Catherine, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Baker, Eva, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Cobban, Laurel A., Cogan, Joy D., Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Douine, Emilie D., Draper, David D., Fieg, Elizabeth L., Findley, Laurie C., Fogel, Brent L., Fresard, Laure, Golden‐Grant, Katie, Goldrich, Madison P, Grajewski, Alana, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Isasi, Rosario, Jarvik, Gail P., Jayadev, Suman, Karaviti, Lefkothea, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Longo, Nicola, Majcherska, Marta M., Manolio, Teri A., Mao, Rong, Martínez‐Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Mirzaa, Ghayda, Mosbrook‐Davis, Deborah, Newman, John H, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Raskind, Wendy, Raja, Archana N., Rosenfeld, Jill A., Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schoch, Kelly, Signer, Rebecca, Sisco, Kathy, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Kathleen, Tabor, Holly K., Tifft, Cynthia J., Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Wener, Mark, Wheeler, Matthew T., Whitlock, Jordan, Yang, John, Zhao, Chunli

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    Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway by Carrot-Zhang, Jian, Yao, Xiaotong, Devarakonda, Siddhartha, Deshpande, Aditya, Damrauer, Jeffrey S., Silva, Tiago Chedraoui, Wong, Christopher K., Choi, Hyo Young, Felau, Ina, Robertson, A. Gordon, Castro, Mauro A.A., Bao, Lisui, Rheinbay, Esther, Liu, Eric Minwei, Trieu, Tuan, Haan, David, Yau, Christina, Hinoue, Toshinori, Liu, Yuexin, Shapira, Ofer, Kumar, Kiran, Mungall, Karen L., Zhang, Hailei, Lee, Jake June-Koo, Berger, Ashton, Gao, Galen F., Zhitomirsky, Binyamin, Liang, Wen-Wei, Zhou, Meng, Moorthi, Sitapriya, Berger, Alice H., Collisson, Eric A., Zody, Michael C., Ding, Li, Cherniack, Andrew D., Getz, Gad, Elemento, Olivier, Benz, Christopher C., Stuart, Josh, Zenklusen, J.C., Beroukhim, Rameen, Chang, Jason C., Campbell, Joshua D., Hayes, D. Neil, Yang, Lixing, Laird, Peter W., Weinstein, John N., Kwiatkowski, David J., Tsao, Ming S., Travis, William D., Khurana, Ekta, Berman, Benjamin P., Hoadley, Katherine A., Robine, Nicolas, Arora, Kanika, Shah, Minita, Shelton, Jennifer, Bowlby, Reanne, Friedl, Verena, Goldman, Mary, Craft, Brian, Heiman, David I., Hajirasouliha, Iman, Ricketts, Camir, Anur, Pavana, Chiotti, Kami E., Caesar-Johnson, Samantha J., Demchok, John A., Ferguson, Martin L., Kemal, Anab, Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Spellman, Paul T., Raphael, Benjamin, Akbani, Rehan, Zhu, Jingchun, Jones, Steven J.M., Shen, Hui, Meyerson, Matthew, Govindan, Ramaswamy, Imielinski, Marcin

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    Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum by Macnamara, Ellen F., McGuire, Peter, Adam, Margaret, Alejandro, Mercedes E, Alvey, Justin, Ashley, Euan A, Balasubramanyam, Ashok, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J, Chanprasert, Sirisak, Coakley, Terra R, Coggins, Matthew, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Davids, Mariska, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dorrani, Naghmeh, Draper, David D, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Ferreira, Carlos, Findley, Laurie C, Goldman, Alica M, Groden, Catherine A, Gropman, Andrea L, Gutierrez, Irma, Hanchard, Neil A, Hassey, Kelly, Hayes, Nichole, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike‐Pyne, Martha, Huang, Alden, Isasi, Rosario, Johnston, Jean M, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S, Krier, Joel B, Lee, Hane, Liu, Xue Zhong, Maas, Richard L, Macnamara, Ellen F., MacRae, Calum A, Mak, Bryan, Manolio, Teri A, Marom, Ronit, Marth, Gabor, Martínez‐Agosto, Julian A, McConkie‐Rosell, Allyn, McCormack, Colleen E, McCray, Alexa T, McGee, Elisabeth, Might, Matthew, Mirzaa, Ghayda, Mulvihill, John J, Nelson, Stan F, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Phillips, John A., Pusey, Barbara N, Raskind, Wendy, Raja, Archana N, Robertson, Amy K, Rodan, Lance H, Ruzhnikov, Maura, Sampson, Jacinda B, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A, Shin, Jimann, Signer, Rebecca, Sinsheimer, Janet S, Solem, Emily, Sullivan, Jennifer A, Sun, Angela, Telischi, Fred, Toro, Camilo, Tran, Alyssa A, Wang, Lee‐kai, Wangler, Michael F, Ward, Patricia A, Perry, Katherine Wesseling, Westerfield, Monte, Whitlock, Jordan, Woods, Jeremy D, Yamamoto, Shinya, Yu, Guoyun

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    Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design by Rachel S. Gross, Tanayott Thaweethai, Erika B. Rosenzweig, James Chan, Lori B. Chibnik, Mine S. Cicek, Amy J. Elliott, Valerie J. Flaherman, Andrea S. Foulkes, Margot Gage Witvliet, Richard Gallagher, Maria Laura Gennaro, Terry L. Jernigan, Elizabeth W. Karlson, Stuart D. Katz, Patricia A. Kinser, Lawrence C. Kleinman, Michelle F. Lamendola-Essel, Joshua D. Milner, Sindhu Mohandas, Praveen C. Mudumbi, Jane W. Newburger, Kyung E. Rhee, Amy L. Salisbury, Jessica N. Snowden, Cheryl R. Stein, Melissa S. Stockwell, Kelan G. Tantisira, Moriah E. Thomason, Dongngan T. Truong, David Warburton, John C. Wood, Shifa Ahmed, Almary Akerlundh, Akram N. Alshawabkeh, Brett R. Anderson, Judy L. Aschner, Andrew M. Atz, Robin L. Aupperle, Fiona C. Baker, Venkataraman Balaraman, Dithi Banerjee, Deanna M. Barch, Arielle Baskin-Sommers, Sultana Bhuiyan, Marie-Abele C. Bind, Amanda L. Bogie, Tamara Bradford, Natalie C. Buchbinder, Elliott Bueler, Hülya Bükülmez, B. J. Casey, Linda Chang, Maryanne Chrisant, Duncan B. Clark, Rebecca G. Clifton, Katharine N. Clouser, Lesley Cottrell, Kelly Cowan, Viren D’Sa, Mirella Dapretto, Soham Dasgupta, Walter Dehority, Audrey Dionne, Kirsten B. Dummer, Matthew D. Elias, Shari Esquenazi-Karonika, Danielle N. Evans, E. Vincent S. Faustino, Alexander G. Fiks, Daniel Forsha, John J. Foxe, Naomi P. Friedman, Greta Fry, Sunanda Gaur, Dylan G. Gee, Kevin M. Gray, Stephanie Handler, Ashraf S. Harahsheh, Keren Hasbani, Andrew C. Heath, Camden Hebson, Mary M. Heitzeg, Christina M. Hester, Sophia Hill, Laura Hobart-Porter, Travis K. F. Hong, Carol R. Horowitz, Daniel S. Hsia, Matthew Huentelman, Kathy D. Hummel, Katherine Irby, Joanna Jacobus, Vanessa L. Jacoby, Pei-Ni Jone, David C. Kaelber, Tyler J. Kasmarcak, Matthew J. Kluko, Jessica S. Kosut, Angela R. Laird

    Published in PloS one
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    Production of muons from heavy-flavour hadron decays in pp collisions at $$ \sqrt{s} $$ = 5.02 TeV by Acharya, S., Adamová, D., Adhya, S. P., Adler, A., Adolfsson, J., Aggarwal, M. M., Aglieri Rinella, G., Agnello, M., Agrawal, N., Ahammed, Z., Ahmad, S., Ahn, S. U., Aiola, S., Akindinov, A., Al-Turany, M., Alam, S. N., Albuquerque, D. S. D., Aleksandrov, D., Alessandro, B., Alfanda, H. M., Alfaro Molina, R., Ali, B., Ali, Y., Alici, A., Alkin, A., Alme, J., Alt, T., Altenkamper, L., Altsybeev, I., Anaam, M. N., Andrei, C., Andreou, D., Andrews, H. A., Andronic, A., Angeletti, M., Anguelov, V., Anson, C., Antičić, T., Antinori, F., Antonioli, P., Anwar, R., Apadula, N., Aphecetche, L., Appelshäuser, H., Arcelli, S., Arnaldi, R., Arratia, M., Arsene, I. C., Arslandok, M., Augustinus, A., Averbeck, R., Aziz, S., Azmi, M. D., Badalà, A., Baek, Y. W., Bagnasco, S., Bailhache, R., Bala, R., Baldisseri, A., Ball, M., Baral, R. C., Barbera, R., Barioglio, L., Barnaföldi, G. G., Barnby, L. S., Barret, V., Bartalini, P., Barth, K., Bartsch, E., Baruffaldi, F., Bastid, N., Basu, S., Batigne, G., Batyunya, B., Batzing, P. C., Bauri, D., Bazo Alba, J. L., Bearden, I. G., Bedda, C., Behera, N. K., Belikov, I., Bellini, F., Bellwied, R., Belyaev, V., Bencedi, G., Beole, S., Bercuci, A., Berdnikov, Y., Berenyi, D., Bertens, R. A., Berzano, D., Betev, L., Bhasin, A., Bhat, I. R., Bhatt, H., Bhattacharjee, B., Bianchi, A., Bianchi, L., Bianchi, N., Bielčík, J.

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    Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy by Bhatia, Aashim, Mobley, Bret C., Koziura, Mary E., Phillips, John, Moore, Steven A., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Berry, Gerard T., Bican, Anna, Birch, Camille L., Bonnenmann, Carsten, Botto, Lorenzo, Brokamp, Elly, Brown, Donna M., Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Cope, Heidi, Craigen, William J., Davids, Mariska, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Eckstein, David J., Emrick, Lisa T., Fogel, Brent L., Godfrey, Rena A., Hamid, Rizwan, High, Frances, Holm, Ingrid A., Jamal, Fariha, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kiley, Dana, Koeller, David M., Kohler, Jennefer N., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lam, Byron, Lanpher, Brendan C., Lazar, Jozef, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Liu, Xue Zhong, Loo, Sandra K., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Marth, Gabor, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., Morava-Kozicz, Eva, Morimoto, Marie, Mulvihill, John J., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Phillips, John A., Quinlan, Aaron, Renteria, Genecee, Robertson, Amy K., Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Urv, Tiina K., Velinder, Matt, Walley, Nicole M., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wheeler, Matthew T., Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli

    Published in Clinical imaging
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    Global distributions of age- and sex-related arterial stiffness: systematic review and meta-analysis of 167 studies with 509,743 participantsResearch in context by Yao Lu, Sophia J. Kiechl, Jie Wang, Qingbo Xu, Stefan Kiechl, Raimund Pechlaner, David Aguilar, Khamis M. Al-Hashmi, Rafael O. Alvim, Ibrahim S. Al-Zakwani, Christina Antza, Arrigo F.G. Cicero, Maja Avramovska, Petar Avramovski, Hyun Jae Baek, Magnus Bäck, Kent Bailey, Marcelo P. Baldo, Rosângela F.L. Batista, Athanasios Benetos, Emelia J. Benjamin, Daniel Bia, Claudio Borghi, Shani Botha-Le Roux, Yolandi Breet, David Burgner, Viviane C. Cardoso, Marina Cecelja, Indre Ceponiene, Chen-Huan Chen, Michael Cheung, Hao-min Cheng, Jaegeol Cho, Phil Chowienczyk, Eduardo B. Coelho, Orsolya Cseprekal, Amilcar BT Da Silva, Frédéric Dallaire, Roberto De Sá Cunha, Alejandro Diaz, Albano V.L. Ferreira, Jean Ferrières, Yoshihiko Furuta, Manuel A. Gómez-Marcos, Leticia Gómez-Sánchez, Julian Halcox, Craig Hanis, Karl-Heinz Herzig, Edgar Jaeggi, Maryam Kavousi, Ursula Kiechl-Kohlendorfer, Hack-Lyoung Kim, Mi-Kyung Kim, Yu-Mi Kim, Eva Kis, Michael Knoflach, Vasilios Kotsis, Teruhide Koyama, Michaela Kozakova, Ruan Kruger, Iftikhar J. Kullo, Sun-Seog Kweon, Irene Lambrinoudaki, Chang Liu, Markus Loeffler, Jeongok G. Logan, Jane Maddock, Pedro Magalhães, João Maldonado, Francesco U.S. Mattace-Raso, Alex Messner, Michelle L. Meyer, Jie Mi, José Geraldo Mill, Gary F. Mitchell, Jian-Jun Mu, Iram F. Muhammad, Johannes Nairz, Atsushi Nakagomi, Mieko Nakamura, Peter M. Nilson, Toshiharu Ninomiya, Carlo Palombo, Alexandre C. Pereira, Telmo Pereira, Daniel P. Capingana, Anna K. Poon, Nicole Probst-Hensch, Arshed A. Quyyumi, George S. Reusz, Moo-Yong Rhee, Cecilia C.C. Ribeiro, Ernst Rietzschel, Paulo R.H. Rocha, Enrique Rodilla, Marta Rojek, Jean-Bernard Ruidavets, Joost H.W. Rutten, Yasuaki Saijo, Paolo Salvi

    Published in EBioMedicine
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    Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome by Pujol‐Giménez, Jonai, Miller, Danny E., Allworth, Aimee, Chanprasert, Sirisak, Folta, Andrew B., Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Rosenthal, Elisabeth A., Schwarze, Ulrike, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Sánchez, Diana Cornejo, Gomeztagle‐Burgess, Katherine, Hurless, Jameson R., Shively, Kathryn M., Weiss, Jeffrey M., Wheeler, Marsha M., Adam, Margaret, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Barbouth, Deborah, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bivona, Stephanie, Blue, Elizabeth, Bonner, Devon, Byers, Peter, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Clark, Gary D., Cole, F. Sessions, Corona, Rosario, Crouse, Andrew B., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Emrick, Lisa T., Fisher, Paul G., Gahl, William A., Hadley, Don, Hahn, Sihoun, High, Frances, Hing, Anne, Hisama, Fuki M., Horike‐Pyne, Martha, Hutchison, Sarah, Izumi, Kosuke, Kohane, Isaac S., Kohler, Jennefer N., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lewis, Richard A., Liu, Xue Zhong, Maduro, Valerie V., Manolio, Teri A., McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Moretti, Paolo, Nickerson, Deborah, Nieves‐Rodriguez, Shirley, Orengo, James P., Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rosenfeld, Jill A., Saporta, Mario, Schaechter, Judy, Scott, Daryl A., Sisco, Kathy, Spillmann, Rebecca C., Sullivan, Jennifer A., Tabor, Holly K., Tifft, Cynthia J., Ungar, Rachel A., Walker, Melissa, Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Yamamoto, Shinya, Dipple, Katrina M., Stergachis, Andrew B.

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