Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species von Tabebordbar, Mohammadsharif, Lagerborg, Kim A., Stanton, Alexandra, King, Emily M., Ye, Simon, Tellez, Liana, Krunnfusz, Allison, Tavakoli, Sahar, Widrick, Jeffrey J., Messemer, Kathleen A., Troiano, Emily C., Moghadaszadeh, Behzad, Peacker, Bryan L., Leacock, Krystynne A., Horwitz, Naftali, Beggs, Alan H., Wagers, Amy J., Sabeti, Pardis C.

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Approach to the diagnosis of congenital myopathies von North, Kathryn N, Wang, Ching H, Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J, Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H, Sewry, Caroline, Laing, Nigel G, Bönnemann, Carsten G

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Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling von Guo, Yuxuan, Cao, Yangpo, Jardin, Blake D., Sethi, Isha, Ma, Qing, Moghadaszadeh, Behzad, Troiano, Emily C., Mazumdar, Neil, Trembley, Michael A., Small, Eric M., Yuan, Guo-Cheng, Beggs, Alan H., Pu, William T.

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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome von Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.

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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy von Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.

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A curated gene list for reporting results of newborn genomic sequencing von Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy von Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes von Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M, Nori, Neeharika, Madden, Jill A, Genetti, Casie A, Wojcik, Monica H, Ponnaluri, Sadhana, Gubbels, Cynthia S, Picker, Jonathan D, O'Donnell-Luria, Anne H, Yu, Timothy W, Bodamer, Olaf, Brownstein, Catherine A, Beggs, Alan H, Agrawal, Pankaj B

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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy von Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.

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An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish von Widrick, Jeffrey J, Gibbs, Devin E, Sanchez, Benjamin, Gupta, Vandana A, Pakula, Anna, Lawrence, Christian, Beggs, Alan H, Kunkel, Louis M

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The BabySeq project: implementing genomic sequencing in newborns von Holm, Ingrid A, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Christensen, Kurt D, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Krier, Joel B, LaMay, Rebecca C, Levy, Harvey L, McGuire, Amy L, Parad, Richard B, Park, Peter J, Pereira, Stacey, Rehm, Heidi L, Schwartz, Talia S, Waisbren, Susan E, Yu, Timothy W, Green, Robert C, Beggs, Alan H

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

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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases von De la Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Loescher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Ounap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.

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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy von Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.

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Distinctive patterns of microRNA expression in primary muscular disorders von Eisenberg, Iris, Eran, Alal, Nishino, Ichizo, Moggio, Maurizio, Lamperti, Costanza, Amato, Anthony A, Lidov, Hart G, Kang, Peter B, North, Kathryn N, Mitrani-Rosenbaum, Stella, Flanigan, Kevin M, Neely, Lori A, Whitney, Duncan, Beggs, Alan H, Kohane, Isaac S, Kunkel, Louis M

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Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations von Splawski, Igor, Timothy, Katherine W., Decher, Niels, Kumar, Pradeep, Sachse, Frank B., Beggs, Alan H., Sanguinetti, Michael C., Keating, Mark T.

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Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States von Graham, Robert J, Darras, Basil T, Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A, Miller, Weston, Beggs, Alan H

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Adenylosuccinic Acid: An Orphan Drug with Untapped Potential von Rybalka, Emma, Kourakis, Stephanie, Bonsett, Charles A, Moghadaszadeh, Behzad, Beggs, Alan H, Timpani, Cara A

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RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes von Bennett, Alexis H, O'Donohue, Marie-Francoise, Gundry, Stacey R, Chan, Aye T, Widrick, Jeffrey, Draper, Isabelle, Chakraborty, Anirban, Zhou, Yi, Zon, Leonard I, Gleizes, Pierre-Emmanuel, Beggs, Alan H, Gupta, Vandana A

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase von Al-Qusairi, Lama, Weiss, Norbert, Toussaint, Anne, Berbey, Céline, Messaddeq, Nadia, Kretz, Christine, Sanoudou, Despina, Beggs, Alan H, Allard, Bruno, Mandel, Jean-Louis, Laporte, Jocelyn, Jacquemond, Vincent, Buj-Bello, Anna

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