Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders von Lee, Hane, Deignan, Joshua L, Dorrani, Naghmeh, Strom, Samuel P, Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L, Martinez-Agosto, Julian A, Wong, Derek A, Chang, Vivian Y, Shieh, Perry B, Palmer, Christina G. S, Dipple, Katrina M, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F

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Review of the Diagnosis and Treatment of Periodic Paralysis von Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.

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Duchenne muscular dystrophy: clinical trials and emerging tribulations von Shieh, Perry B

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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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Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy von Shieh, Perry B.

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration von Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C

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Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials von McDonald, Craig M., Sajeev, Gautam, Yao, Zhiwen, McDonnell, Erin, Elfring, Gary, Souza, Marcio, Peltz, Stuart W., Darras, Basil T., Shieh, Perry B., Cox, David A., Landry, John, Signorovitch, James

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Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy von Ramos-Platt, Leigh, Elman, Lauren, Shieh, Perry B

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Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing T... von Rybalka, Emma, Park, Hyung Jun, Nalini, Atchayaram, Baskar, Dipti, Polavarapu, Kiran, Durmus, Hacer, Xia, Yang, Wan, Linlin, Shieh, Perry B, Moghadaszadeh, Behzad, Beggs, Alan H, Mack, David L, Smith, Alec S T, Hanna-Rose, Wendy, Jinnah, Hyder A, Timpani, Cara A, Shen, Min, Upadhyay, Jaymin, Brault, Jeffrey J, Hall, Matthew D, Baweja, Naveen, Kakkar, Priyanka

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Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscu... von Mendell, Jerry R, Shieh, Perry B, McDonald, Craig M, Sahenk, Zarife, Lehman, Kelly J, Lowes, Linda P, Reash, Natalie F, Iammarino, Megan A, Alfano, Lindsay N, Sabo, Brenna, Woods, Jeremy D, Skura, Christy L, Mao, Howard C, Staudt, Loretta A, Griffin, Danielle A, Lewis, Sarah, Wang, Shufang, Potter, Rachael A, Singh, Teji, Rodino-Klapac, Louise R

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Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled,... von Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.

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Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial von Shieh, Perry B., Mcintosh, Joseph, Jin, Fengbin, Souza, Marcio, Elfring, Gary, Narayanan, Siva, Trifillis, Panayiota, Peltz, Stuart W., Mcdonald, Craig M., Darras, Basil T.

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Photoacoustic Imaging of Multiple Targets Using Gold Nanorods von Li, P.-C., Wei, C.-W., Liao, C.-K., Chen, C.-D., Pao, K.-C., Wang, C.-R.C., Wu, Y.-N., Shieh, D.-B.

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Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status von McDonald, Craig M, Marden, Jessica R, Shieh, Perry B, Wong, Brenda L, Lane, Henry, Zhang, Adina, Nguyen, Ha, Frean, Molly, Trifillis, Panayiota, Koladicz, Karyn, Signorovitch, James

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A Phase II Study of Neoadjuvant Opnurasib KRAS G12C Inhibitor in Patients With Surgically Resectable Non-Small Cell Lung Cancer (CCTG IND.242A): A Substudy of the IND.242 Platform... von Spicer, J., Blais, N., Owen, S., Robinson, A.G., Chu, Q., Labbe, C., Shieh, B., Brown-Walker, P., Sederias, J., Jensen, K., Farago, A.F., Tsao, M.-S., Cottrell, T.R., Kidane, B., Laurie, S., Juergens, R., Bradbury, P.A., Tu, W., Gaudreau, P.-O.

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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial von Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

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Identification of a Signaling Pathway Involved in Calcium Regulation of BDNF Expression von Shieh, Perry B., Hu, Shu-Ching, Bobb, Kathryn, Timmusk, Tonnis, Ghosh, Anirvan

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Topical Laser Application Enhances Enamel Fluoride Uptake and Tribological Properties von Jeng, Y.-R., Lin, T.-T., Huang, J.-S., Peng, S.-R., Shieh, D.-B.

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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial von Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre,... von Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R

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