Connexin43 Expression Increases in the Epithelium and Stroma along the Colonic Neoplastic Progression Pathway: Implications for Its Oncogenic Role

por Han, Yusheng, Zhang, Paul J., Chen, Terina, Yum, Sabrina W., Pasha, Teresa, Furth, Emma E.
Publicado 2011

Thoracoscopic thymectomy for juvenile myasthenia gravis

por Kim, Aimee G., Upah, Sydney A., Brandsema, John F., Yum, Sabrina W., Blinman, Thane A.
Publicado 2019

Macrophage depletion blocks congenital SARM1-dependent neuropathy

por Dingwall, Caitlin B., Strickland, Amy, Yum, Sabrina W., Yim, Aldrin K.Y., Zhu, Jian, Wang, Peter L., Yamada, Yurie, Schmidt, Robert E., Sasaki, Yo, Bloom, A. Joseph, DiAntonio, Aaron, Milbrandt, Jeffrey
Publicado 2022

A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

por Beggs, Alan H., Byrne, Barry J., De Chastonay, Sabine, Haselkorn, Tmirah, Hughes, Imelda, James, Emma S., Kuntz, Nancy L., Simon, Jennifer, Swanson, Lindsay C., Yang, Michele L., Yu, Zi‐Fan, Yum, Sabrina W., Prasad, Suyash
Publicado 2017

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

por Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, David N., Shy, Michael E., Pareyson, Davide, Reilly, Mary M., Scherer, Steven S.
Publicado 2017

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

por Ahrens-Nicklas, Rebecca C., Pappas, Christopher T., Farman, Gerrie P., Mayfield, Rachel M., Larrinaga, Tania M., Medne, Livija, Ritter, Alyssa, Krantz, Ian D., Murali, Chaya, Lin, Kimberly Y., Berger, Justin H., Yum, Sabrina W., Carreon, Chrystalle Katte, Gregorio, Carol C.
Publicado 2019

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

por Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma S, LaRusso, Laurie B, Noursalehi, Mojtaba, Rico, Salvador, Beggs, Alan H
Publicado 2020

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

por Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua
Publicado 2020

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

por Tao, Feifei, Beecham, Gary W., Rebelo, Adriana P., Blanton, Susan H., Moran, John J., Lopez-Anido, Camila, Svaren, John, Abreu, Lisa, Rizzo, Devon, Kirk, Callyn A., Wu, Xingyao, Feely, Shawna, Verhamme, Camiel, Saporta, Mario A., Herrmann, David N., Day, John W., Sumner, Charlotte J., Lloyd, Thomas E., Li, Jun, Yum, Sabrina W., Taroni, Franco, Baas, Frank, Choi, Byung-Ok, Pareyson, Davide, Scherer, Steven S., Reilly, Mary M., Shy, Michael E., Züchner, Stephan
Publicado 2019

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

por Record, Christopher J, Skorupinska, Mariola, Laura, Matilde, Rossor, Alexander M, Pareyson, Davide, Pisciotta, Chiara, Feely, Shawna M E, Lloyd, Thomas E, Horvath, Rita, Sadjadi, Reza, Herrmann, David N, Li, Jun, Walk, David, Yum, Sabrina W, Lewis, Richard A, Day, John, Burns, Joshua, Finkel, Richard S, Saporta, Mario A, Ramchandren, Sindhu, Weiss, Michael D, Acsadi, Gyula, Fridman, Vera, Muntoni, Francesco, Poh, Roy, Polke, James M, Zuchner, Stephan, Shy, Michael E, Scherer, Steven S, Reilly, Mary M
Publicado 2023

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

por Pipis, Menelaos, Feely, Shawna M E, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M
Publicado 2021

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

por Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O’Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Publicado 2021

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014