Strategies for selecting monitoring of circuit breakers von Sweetser, C., Bergman, W.J., Montillet, G., Mannarino, A., O'Donnell, E.J., Long, R.W., Nelson, J., Gavazza, R., Jackson, R.

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Strategies for Selecting Monitoring of Circuit Breakers von Sweetser, C., Bergman, W. J., Montillet, G., Mannarino, A., O'Donnell, E. J., William, Long, R., Nelson, J., Gavazza, R., Jackson, R.

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Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study von Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera‐Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charles, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane

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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 von Garrelfs, Sander F, Frishberg, Yaacov, Hulton, Sally A, Koren, Michael J, O’Riordan, William D, Cochat, Pierre, Deschênes, Georges, Shasha-Lavsky, Hadas, Saland, Jeffrey M, van’t Hoff, William G, Fuster, Daniel G, Magen, Daniella, Moochhala, Shabbir H, Schalk, Gesa, Simkova, Eva, Groothoff, Jaap W, Sas, David J, Meliambro, Kristin A, Lu, Jiandong, Sweetser, Marianne T, Garg, Pushkal P, Vaishnaw, Akshay K, Gansner, John M, McGregor, Tracy L, Lieske, John C

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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

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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues von Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.

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Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis von Maurer, Mathew S., Kale, Parag, Fontana, Marianna, Berk, John L., Grogan, Martha, Gustafsson, Finn, Hung, Rebecca R., Gottlieb, Robert L., Damy, Thibaud, González-Duarte, Alejandra, Sarswat, Nitasha, Sekijima, Yoshiki, Tahara, Nobuhiro, Taylor, Mark S., Kubanek, Milos, Donal, Erwan, Palecek, Tomas, Tsujita, Kenichi, Tang, W.H. Wilson, Yu, Wen-Chung, Obici, Laura, Simões, Marcus, Fernandes, Fábio, Poulsen, Steen Hvitfeldt, Diemberger, Igor, Perfetto, Federico, Solomon, Scott D., Di Carli, Marcelo, Badri, Prajakta, White, Matthew T., Chen, Jihong, Yureneva, Elena, Sweetser, Marianne T., Jay, Patrick Y., Garg, Pushkal P., Vest, John, Gillmore, Julian D.

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Serrated Colon Polyps as Precursors to Colorectal Cancer von Sweetser, Seth, Smyrk, Thomas C, Sinicrope, Frank A

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Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases von Farough, S, Karaa, A, Walker, M.A, Slate, N, Dasu, T, Verbsky, J, Fusunyan, R, Canapari, C, Kinane, T.B, Van Cleave, J, Sweetser, D.A, Sims, K.B, Walter, J.E

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism von Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment von Dutta, Debdeep, Briere, Lauren C, Kanca, Oguz, Marcogliese, Paul C, Walker, Melissa A, High, Frances A, Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J, Simons, Cas, Helman, Guy, Network, Undiagnosed Diseases, Wangler, Michael F, Yamamoto, Shinya, Sweetser, David A, Bellen, Hugo J

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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays von Pan, Xueyang, Alvarez, Albert N, Ma, Mengqi, Lu, Shenzhao, Crawford, Michael W, Briere, Lauren C, Kanca, Oguz, Yamamoto, Shinya, Sweetser, David A, Wilson, Jenny L, Napier, Ruth J, Pruneda, Jonathan N, Bellen, Hugo J

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Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria von Balwani, Manisha, Sardh, Eliane, Ventura, Paolo, Peiró, Paula Aguilera, Rees, David C, Stölzel, Ulrich, Bissell, D. Montgomery, Bonkovsky, Herbert L, Windyga, Jerzy, Anderson, Karl E, Parker, Charles, Silver, Samuel M, Keel, Siobán B, Wang, Jiaan-Der, Stein, Penelope E, Harper, Pauline, Vassiliou, Daphne, Wang, Bruce, Phillips, John, Ivanova, Aneta, Langendonk, Janneke G, Kauppinen, Raili, Minder, Elisabeth, Horie, Yutaka, Penz, Craig, Chen, Jihong, Liu, Shangbin, Ko, John J, Sweetser, Marianne T, Garg, Pushkal, Vaishnaw, Akshay, Kim, Jae B, Simon, Amy R, Gouya, Laurent

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Tle corepressors are differentially partitioned to instruct CD8 + T cell lineage choice and identity von Xing, Shaojun, Shao, Peng, Li, Fengyin, Zhao, Xudong, Seo, Wooseok, Wheat, Justin C, Ramasamy, Selvi, Wang, Jianfeng, Li, Xiang, Peng, Weiqun, Yu, Shuyang, Liu, Chengyu, Taniuchi, Ichiro, Sweetser, David A, Xue, Hai-Hui

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A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome von Cardenas, Christian Lacks Lino, Briere, Lauren C, Sweetser, David A, Lindsay, Mark E, Musolino, Patricia L

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A Malignant Mimic von Shergill, Sukhman, Smyrk, Thomas C, Sweetser, Seth, MD

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Daclizumab high-yield process in relapsing-remitting multiple sclerosis (SELECTION): a multicentre, randomised, double-blind extension trial von Giovannoni, Gavin, Prof, Gold, Ralf, Prof, Selmaj, Krzysztof, Prof, Havrdova, Eva, Prof, Montalban, Xavier, Prof, Radue, Ernst-Wilhelm, Prof, Stefoski, Dusan, MD, McNeill, Manjit, MSc, Amaravadi, Lakshmi, PhD, Sweetser, Marianne, MD, Elkins, Jacob, MD, O'Neill, Gilmore, MRCPI

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Esophagitis Dissecans Superficialis: Clinical, Endoscopic, and Histologic Features von Hart, Phil A., Romano, Ryan C., Moreira, Roger K., Ravi, Karthik, Sweetser, Seth

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features von Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., Bellen, Hugo J.

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CT findings in idiopathic myointimal hyperplasia of mesenteric veins (IMHMV) and comparison to other colitides von Bach, Corrie R., Sheedy, Shannon P., Heiken, Jay P., Graham, Rondell P., Moreira, Roger K., Smyrk, Thomas C., Sweetser, Seth R., Fidler, Jeff L.

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