Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease von Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.

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A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene von Kemaladewi, Dwi U., Bassi, Prabhpreet S., Erwood, Steven, Al-Basha, Dhekra, Gawlik, Kinga I., Lindsay, Kyle, Hyatt, Elzbieta, Kember, Rebekah, Place, Kara M., Marks, Ryan M., Durbeej, Madeleine, Prescott, Steven A., Ivakine, Evgueni A., Cohn, Ronald D.

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Role of TGF-β signaling in inherited and acquired myopathies von Burks, Tyesha N, Cohn, Ronald D

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Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders von Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.

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Genome sequencing as a diagnostic test von Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., Marshall, Christian R.

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Saturation variant interpretation using CRISPR prime editing von Erwood, Steven, Bily, Teija M. I., Lequyer, Jason, Yan, Joyce, Gulati, Nitya, Brewer, Reid A., Zhou, Liangchi, Pelletier, Laurence, Ivakine, Evgueni A., Cohn, Ronald D.

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test von Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

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An optimized toolkit for prime editing von Marks, Ryan M., Scott, Ori, Ivakine, Evgueni A., Cohn, Ronald D.

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Treating pediatric neuromuscular disorders: The future is now von Dowling, James J., D. Gonorazky, Hernan, Cohn, Ronald D., Campbell, Craig

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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L von Yoon, Grace, MD, Malam, Zeenat, PhD, Paton, Tara, PhD, Marshall, Christian R., PhD, Hyatt, Ella, BSc, Ivakine, Zhenya, PhD, Scherer, Stephen W., PhD, Lee, Kyong-Soon, MD, Hawkins, Cynthia, MD, PhD, Cohn, Ronald D., MD

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Clinically relevant copy number variations detected in cerebral palsy von Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.

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Regulation of Muscle Mass by Follistatin and Activins von Lee, Se-Jin, Lee, Yun-Sil, Zimmers, Teresa A, Soleimani, Arshia, Matzuk, Martin M, Tsuchida, Kunihiro, Cohn, Ronald D, Barton, Elisabeth R

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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study von Willis, Tracey A, Hollingsworth, Kieren G, Coombs, Anna, Sveen, Marie-Louise, Andersen, Søren, Stojkovic, Tanya, Eagle, Michelle, Mayhew, Anna, de Sousa, Paulo L, Dewar, Liz, Morrow, Jasper M, Sinclair, Christopher D J, Thornton, John S, Bushby, Kate, Lochmüller, Hanns, Hanna, Michael G, Hogrel, Jean-Yves, Carlier, Pierre G, Vissing, John, Straub, Volker

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Advances in CRISPR/Cas9 Genome Editing for the Treatment of Muscular Dystrophies von Fatehi, Sina, Marks, Ryan M, Rok, Matthew J, Perillat, Lucie, Ivakine, Evgueni A, Cohn, Ronald D

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The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free... von Scott, Ori, Visuvanathan, Shagana, Reddy, Emily, Mahamed, Deeqa, Gu, Bin, Roifman, Chaim M, Cohn, Ronald D, Guidos, Cynthia J, Ivakine, Evgueni A

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MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review von Borlot, Felippe, Whitney, Robyn, Cohn, Ronald D., Weiss, Shelly K.

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Identification and characterization of a functional mitochondrial angiotensin system von Abadir, Peter M, Foster, D. Brian, Crow, Michael, Cooke, Carol A, Rucker, Jasma J, Jain, Alka, Smith, Barbara J, Burks, Tyesha N, Cohn, Ronald D, Fedarko, Neal S, Carey, Robert M, O’Rourke, Brian, Walston, Jeremy D

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Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism von Kemaladewi, Dwi U, Maino, Eleonora, Hyatt, Elzbieta, Hou, Huayun, Ding, Maylynn, Place, Kara M, Zhu, Xinyi, Bassi, Prabhpreet, Baghestani, Zahra, Deshwar, Amit G, Merico, Daniele, Xiong, Hui Y, Frey, Brendan J, Wilson, Michael D, Ivakine, Evgueni A, Cohn, Ronald D

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Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes von Pane, Marika, Mazzone, Elena Stacy, Sivo, Serena, Sormani, Maria Pia, Messina, Sonia, D'Amico, Adele, Carlesi, Adelina, Vita, Gianluca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, Lanzillotta, Valentina, Viggiano, Emanuela, D Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Barp, Andrea, Bonfiglio, Serena, Scalise, Roberta, De Sanctis, Roberto, Rolle, Enrica, Graziano, Alessandra, Magri, Francesca, Palermo, Concetta, Rossi, Francesca, Donati, Maria Alice, Sacchini, Michele, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Bruno, Claudio, Politano, Luisa, Comi, Giacomo P, Bertini, Enrico, Mercuri, Eugenio

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Urgent call for guidance supporting gene-based drug dosing in children and adolescents von Scodellaro, Sierra, Cohn, Ronald D, Cohn, Iris

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