CT strain metrics allow for earlier diagnosis of bronchiolitis obliterans syndrome after hematopoietic cell transplant von Sharifi, Husham, Bertini, Christopher D., Alkhunaizi, Mansour, Hernandez, Maria, Musa, Zayan, Borges, Carlos, Turk, Ihsan, Bashoura, Lara, Dickey, Burton F., Cheng, Guang-Shing, Yanik, Gregory, Galban, Craig J., Guo, Huawei Henry, Godoy, Myrna C. B., Reinhardt, Joseph M., Hoffman, Eric A., Castro, Mario, Rondon, Gabriela, Alousi, Amin M., Champlin, Richard E., Shpall, Elizabeth J., Lu, Ying, Peterson, Samuel, Datta, Keshav, Nicolls, Mark R., Hsu, Joe, Sheshadri, Ajay

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DISTINGUISHING EARLY BRONCHIOLITIS OBLITERANS SYNDROME AFTER HEMATOPOIETIC CELL TRANSPLANTATION USING NOVEL LUNG STRAIN METRICS FROM CHEST CT SCANS von SHARIFI, HUSHAM, BERTINI, CHRISTOPHER D, ALKHUNAIZI, MANSOUR A, HERNANDEZ, MARIA, TURK, IHSAN, BASHOURA, LARA, DICKEY, BURTON, CHENG, GUANG-SHING, YANIK, GREGORY, GALBÁN, CRAIG, GODOY, MYRNA, GUO, HAIWEI H, REINHARDT, JOSEPH, HOFFMAN, ERIC A, CASTRO, MARIO, ALOUSI, AMIN, CHAMPLIN, RICHARD E, SHPALL, ELIZABETH, RONDON, GABRIELA, PETERSON, SAMUEL, DATTA, KESHAV, MCELENEY, STEPHEN, HSU, JOE L, SHESHADRI, AJAY

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INTERSTITIAL LUNG DISEASE AFTER COVID-19 IN PATIENTS WITH CANCER AND WITHOUT: A PROSPECTIVE COHORT STUDY von NOH, SUNGRYONG, D BERTINI, CHRISTOPHER, C MIRA-AVENDANO, ISABEL, KAOUS, MARYAM, PATEL, BELA, A FAIZ, SAADIA, R SHANNON, VICKIE, D BALACHANDRAN, DIWAKAR, BASHOURA, LARA, ADACHI, ROBERTO, E EVANS, SCOTT, MANZANO, JOANNA, GRANWEHR, BRUNO, HOLLOWAY, SHANNON, DICKSON, KODWO, MOHAMMED, ALYSSA, MUTHU, MAYOORA, SONG, HUI, LEE, LYNDON, KHAWAJA, FAREED, SHESHADRI, AJAY

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THE ASSOCIATION OF VOXEL-LEVEL LUNG DEFORMATION INDICES WITH AIRFLOW OBSTRUCTION IN POST-HEMATOPOIETIC CELL TRANSPLANTATION BRONCHIOLITIS OBLITERANS SYNDROME von BERTINI, CHRISTOPHER, HERNANDEZ, MARIA, ALOUSI, AMIN, MEHTA, ROHTESH, BASHOURA, LARA, HASAN ARAIN, MUHAMMAD, NOOR, LAILA, MONTANEZ, DIANA, POPAT, UDAY, HOSING, CHITRA, RONDON, GABRIELA, JENNINGS, KRISTOFER, GODOY, MYRNA, LAYMAN, RICK, MCELENEY, STEPHEN, SIEREN, JERED, CASTRO, MARIO, PACZESNY, SOPHIE, HOFFMAN, ERIC, OST, DAVID, CHAMPLIN, RICHARD, DICKEY, BURTON, SHESHADRI, AJAY

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Interstitial lung abnormalities after hospitalization for COVID-19 in patients with cancer: A prospective cohort study von Noh, Sungryong, Bertini, Christopher, Mira-Avendano, Isabel, Kaous, Maryam, Patel, Bela, Faiz, Saadia A, Shannon, Vickie R, Balachandran, Diwakar D, Bashoura, Lara, Adachi, Roberto, Evans, Scott E, Dickey, Burton, Wu, Carol, Shroff, Girish S, Manzano, Joanna-Grace, Granwehr, Bruno, Holloway, Shannon, Dickson, Kodwo, Mohammed, Alyssa, Muthu, Mayoora, Song, Hui, Chung, Caroline, Wu, Jia, Lee, Lyndon, Jiang, Ying, Khawaja, Fareed, Sheshadri, Ajay

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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study von De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

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Extracorporeal membrane oxygenation support in COVID-19: an international cohort study of the Extracorporeal Life Support Organization registry von Iwashyna, Theodore J, Fan, Eddy, Tonna, Joseph E, Anders, Marc M, Agerstrand, Cara L, Hryniewicz, Katarzyna, Lorusso, Roberto, Combes, Alain, Brodie, Daniel, Alexander, Peta, Barrett, Nicholas, Fisher, Dale, Jung, Jae Sung, McMullan, Michael, Mehta, Yatin, Paden, Matthew L., Alviar, Carlos, August, Erin, Aveja, Hilda, Bakken, Rhonda, Balcells, Joan, Barnes, Bernard W., Bellows, Lorraine L., Beltran, Felipe, Benni, Marco, Bertini, Pietro, Budd, Jenny, Camp, Debra, Caridi-Scheible, Mark, Casanova-Ghosh, Elena, Chipongian, Christopher T., Choi, Chang Woo, Collins, Michael, Daneshmand, Mani, Davis II, Daniel, De la Cruz, Kim, Devers, Cyndie, Duculan, Toni, Durham, Lucian, Elapavaluru, Subbarao, Elzo Kraemer, Carlos V., Foti, Giuseppe, Fritschen, David, Fullerton, David, Gelandt, Elton, Gerle, Stacy, Giani, Marco, Grone, Julie, Gudzenko, Vadim, Guy, Jennifer, Hall, Cameron, Herrán, Rubén, Jackson, Julie, Jain, Harsh, Jurynec, Jenniver A., Kon, Zachary, Kredel, Markus, Kriska, Karen, LaRocque, Jeliene, Ledot, Stephane, Lillie, Jonathan, Lotz, Gösta, Lucas, Mark, Maas, Jacinta J., McDonald, Bernard, McMahon, Chelsea, Meybohm, Patrick, Meyns, Bart, Miller, Casey, Morris, Kelly, O'Brien, Serena, Ogston, Tawnya, Oppel, Emily, Pardo, Diego, Pellecchia, Crescens, Pirani, Tasneem, Piwowarczyk, Paweł, Plambeck, Robert, Pruett, William, Quandt, Brittany, Roberts, Rachel, Roeleveld, Peter P., Rudy, Janet, Rueda, Luis F., Russo, Emanuele, Sánchez Ballesteros, Jesús, Saunders, Paul C., Serra, Alexis, Sim, Lucy, Smart, Alexandra, Smith, Adam, Smith, Deane, Sodha, Neel, Stewart, Allison, Takeda, Koji, van Poppel, Scott, Vercaemst, Leen, Vinh Chau, Nguyen V., Williamson, Carrie, Winkels, Helen

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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy von Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger

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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care von Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Qian, Ying, Sejersen, Thomas, Muntoni, Francesco, Wirth, Brunhilde, Tiziano, Francesco Danilo, Kirschner, Janbernd, Tizzano, Eduardo, Topaloglu, Haluk, Swoboda, Kathy, Laing, Nigel, Kayoko, Saito, Prior, Thomas, Chung, Wendy K., Wu, Shou-Mei, Montes, Jacqueline, Mazzone, Elena, Main, Marion, Coleman, Caron, Gee, Richard, Glanzman, Allan, Kroksmark, Anna-Karin, Krosschell, Kristin, Nelson, Leslie, Rose, Kristy, Stępień, Agnieszka, Vuillerot, Carole, Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Dubousset, Jean, Farrington, David, Flynn, Jack, Halanski, Matthew, Hasler, Carol, Miladi, Lotfi, Reilly, Christopher, Roye, Benjamin, Sponseller, Paul, Yazici, Muharrem, Hurst, Rebecca, Bertini, Enrico, Tarrant, Stacey, Barja, Salesa, Bertoli, Simona, Crawford, Thomas, Foust, Kevin, Kyle, Barbara, Rodan, Lance, Roper, Helen, Seffrood, Erin, Swoboda, Kathryn, Szlagatys-Sidorkiewicz, Agnieszka

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Outcomes of radical nephroureterectomy: A series from the Upper Tract Urothelial Carcinoma Collaboration von Margulis, Vitaly, Shariat, Shahrokh F., Matin, Surena F., Kamat, Ashish M., Zigeuner, Richard, Kikuchi, Eiji, Lotan, Yair, Weizer, Alon, Raman, Jay D., Wood, Christopher G.

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An international classification of inherited metabolic disorders (ICIMD) von Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

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Estimated pulse wave velocity improves risk stratification for all-cause mortality in patients with COVID-19 von Stamatelopoulos, Kimon, Georgiopoulos, Georgios, Baker, Kenneth F., Tiseo, Giusy, Delialis, Dimitrios, Lazaridis, Charalampos, Barbieri, Greta, Masi, Stefano, Vlachogiannis, Nikolaos I., Sopova, Kateryna, Mengozzi, Alessandro, Ghiadoni, Lorenzo, Schim van der Loeff, Ina, Hanrath, Aidan T., Ajdini, Bajram, Vlachopoulos, Charalambos, Dimopoulos, Meletios A., Duncan, Christopher J. A., Falcone, Marco, Stellos, Konstantinos

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Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers von Ilg, Winfried, Milne, Sarah, Schmitz-Hübsch, Tanja, Alcock, Lisa, Beichert, Lukas, Bertini, Enrico, Mohamed Ibrahim, Norlinah, Dawes, Helen, Gomez, Christopher M., Hanagasi, Hasmet, Kinnunen, Kirsi M., Minnerop, Martina, Németh, Andrea H., Newman, Jane, Ng, Yi Shiau, Rentz, Clara, Samanci, Bedia, Shah, Vrutangkumar V., Summa, Susanna, Vasco, Gessica, McNames, James, Horak, Fay B.

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Integrated deep phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships (2850) von Deisseroth, Cole, Nayak, Aarushi, Bliss, Nathan, Lerma, Vanesa, Lemaire, Ashley, Narayanan, Vinodh, Balak, Christopher, Zanni, Ginevra, Valente, Enza Maria, Bertini, Enrico, Benke, Paul, Wangler, Michael, Chao, Hsiao-Tuan

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Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset von Huggett, Spencer B, Tebbenkamp, Andrew T N, Rinaldi, Carlo, Jayaseelan, Dipa, Zampedri, Luca, Blasi, Lorenzo, Fortuna, Andrea, Alqahtani, Abdullah, Kokkinis, Angela, Dahlqvist, Julia, Fenu, Silvia, Cavalca, Eleonora, Bertini, Alessandro, Mariotti, Caterina, Grunseich, Christopher, Kawase, Takahiro, Kishimoto, Yoshiyuki, Yamada, Shinichiro, Katsuno, Masahisa, Fratta, Pietro, Conte, Amelia, Sabatelli, Mario, Soraru, Gianni, Vissing, John, Kang, Minsung, Park, Jin-Sung, Pareyson, Davide, Viglietta, Vissia

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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing von Saoura, Makenzie, Powell, Christopher A., Kopajtich, Robert, Alahmad, Ahmad, AL‐Balool, Haya H., Albash, Buthaina, Alfadhel, Majid, Alston, Charlotte L., Bertini, Enrico, Bonnen, Penelope E., Bratkovic, Drago, Carrozzo, Rosalba, Donati, Maria A., Di Nottia, Michela, Ghezzi, Daniele, Goldstein, Amy, Haan, Eric, Horvath, Rita, Hughes, Joanne, Invernizzi, Federica, Lamantea, Eleonora, Lucas, Benjamin, Pinnock, Kyla‐Gaye, Pujantell, Maria, Rahman, Shamima, Rebelo‐Guiomar, Pedro, Santra, Saikat, Verrigni, Daniela, McFarland, Robert, Prokisch, Holger, Taylor, Robert W., Levinger, Louis, Minczuk, Michal

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder von Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan

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An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain von Deisseroth, Cole A., Lerma, Vanesa C., Magyar, Christina L., Pfliger, Jessica Mae, Nayak, Aarushi, Bliss, Nathan D., LeMaire, Ashley W., Narayanan, Vinodh, Balak, Christopher, Zanni, Ginevra, Valente, Enza Maria, Bertini, Enrico, Benke, Paul J., Wangler, Michael F., Chao, Hsiao‐Tuan

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy von Yuen, Michaela, Sandaradura, Sarah A, Dowling, James J, Kostyukova, Alla S, Moroz, Natalia, Quinlan, Kate G, Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J, Ceyhan-Birsoy, Ozge, Gokhin, David S, Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T, Novak, Stefanie M, D'Amico, Adele, Malfatti, Edoardo, Thomas, Brett P, Gabriel, Stacey B, Gupta, Namrata, Daly, Mark J, Ilkovski, Biljana, Houweling, Peter J, Davidson, Ann E, Swanson, Lindsay C, Brownstein, Catherine A, Gupta, Vandana A, Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P, Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B, Sloboda, Darcée D, Bertini, Enrico, Chitayat, David, Telfer, William R, Laquerrière, Annie, Gregorio, Carol C, Ottenheijm, Coen A C, Bönnemann, Carsten G, Pelin, Katarina, Beggs, Alan H, Hayashi, Yukiko K, Romero, Norma B, Laing, Nigel G, Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M, MacArthur, Daniel G, North, Kathryn N, Clarke, Nigel F

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Predicting Cardiovascular Rehabilitation of Patients with Coronary Artery Disease Using Transfer Feature Learning von Torres, Romina, Zurita, Christopher, Mellado, Diego, Nicolis, Orietta, Saavedra, Carolina, Tuesta, Marcelo, Salinas, Matías, Bertini, Ayleen, Pedemonte, Oneglio, Querales, Marvin, Salas, Rodrigo

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