A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy von Mousa, Mohammad A., Aria, David J., Schaefer, Carrie M., Kaye, Robin D., Abruzzo, Todd A., Bernes, Saunder M., Willard, Scott D., Riemann, Monique C., Towbin, Richard B.

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Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene von Jepsen, Wayne M, Fazenbaker, Andrew, Ramsey, Keri, Bonfitto, Anna, Naymik, Marcus, Turner, Bryce, Sloan, Jennifer, Tiwari, Nishant, Bernes, Saunder M, Neilson, Derek E, Sanchez-Castillo, Meredith, Huentelman, Matt J, Narayanan, Vinodh

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities von Patel, Ankita, Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai

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Outcomes of thoracoscopic thymectomy in patients with juvenile myasthenia gravis von Ashfaq, Awais, Bernes, Saunder M, Weidler, Erica M, Notrica, David M

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Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians von Veerapandiyan, Aravindhan, Connolly, Anne M., Mathews, Katherine D., Nelson, Stanley, McDonald, Craig, Finkel, Richard S., Vedanarayanan, Vettaikorumakankav, Tian, Cuixia, Apkon, Susan, Parsons, Julie A., Soslow, Jonathan H., Burnette, William Bryan, Batley, Kaitlin Y., Iannaccone, Susan T., Rocha, Carolina Tesi, Flanigan, Kevin M., Bharucha‐Goebel, Diana, Wright, Sarah, Monduy, Migvis, Treidler, Simona, Kumar, Ashutosh, Kuntz, Nancy L., Rao, Vamshi K., Schrader, Rachel, Bernes, Saunder M., Stefans, Vikki Ann, Krueger, Jena M., Felker, Marcia V., Hamid, Omer Abdul, Lakhotia, Arpita, Matesanz, Susan, Ghosh, Partha S., Katz, Natalie, Abdel‐Hamid, Hoda, Laverty, Chamindra G., Lee, Bo Hoon, Harper, Amy, Ramos‐Platt, Leigh, Castro, Diana, Butterfield, Russell J., Proud, Crystal M., Zaidman, Craig M., Ciafaloni, Emma

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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing von Hunter, Jesse M., Ahearn, Mary Ellen, Balak, Christopher D., Liang, Winnie S., Kurdoglu, Ahmet, Corneveaux, Jason J., Russell, Megan, Huentelman, Matthew J., Craig, David W., Carpten, John, Coons, Stephen W., DeMello, Daphne E., Hall, Judith G., Bernes, Saunder M., Baumbach‐Reardon, Lisa

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Recurrent reciprocal lq21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities von BRUNETTI-PIERRI, Nicola, BERG, Jonathan S, SHEN, Joseph, KANG, Sung-Hae L, PURSLEY, Amber, LOTZE, Timothy, KENNEDY, Gail, LANSKY-SHAFER, Susan, WEAVER, Christine, ROEDER, Elizabeth R, GREBE, Theresa A, ARNOLD, Georgianne L, SCAGLIA, Fernando, HUTCHISON, Terry, REIMSCHISEL, Tyler, AMATO, Stephen, GERAGTHY, Michael T, INNIS, Jeffrey W, OBERSZTYN, Ewa, NOWAKOWSKA, Beata, ROSENGREN, Sally S, BADER, Patricia I, GRANGE, Dorothy K, BELMONT, John, NAQVI, Sayed, GARNICA, Adolfo D, BERNES, Saunder M, FONG, Chin-To, SUMMERS, Anne, WALTERS, W. David, LUPSKI, James R, STANKIEWICZ, Pawel, SAU WAI CHEUNG, PATEL, Ankita, BACINO, Carlos A, SAHOO, Trilochan, LALANI, Seema R, GRAHAM, Brett, LEE, Brendan, SHINAWI, Marwan

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Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome von Bernes, Saunder M., Bacino, Carlos, Prezant, Toni R., Pearson, Margaret A., Wood, Terry S., Fournier, Patricia, Fischel-Ghodsian, Nathan

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Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease von Kaler, Stephen G., Westman, Judith A., Bernes, Saunder M., Elsayed, Al M., Bowe, Constance M., Freeman, Katherine L.B., Wu, C. Daniel, Wallach, Michael T.

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Hemolytic uremic syndrome with particular involvement of basal ganglia and favorable outcome von Barnett, Nancy D.P., Kaplan, Allen M., Bernes, Saunder M., Cohen, Melvin L.

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ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations von Chen, Dong-Hui, Méneret, Aurélie, Friedman, Jennifer R, Korvatska, Olena, Gad, Alona, Bonkowski, Emily S, Stessman, Holly A, Doummar, Diane, Mignot, Cyril, Anheim, Mathieu, Bernes, Saunder, Davis, Marie Y, Damon-Perrière, Nathalie, Degos, Bertrand, Grabli, David, Gras, Domitille, Hisama, Fuki M, Mackenzie, Katherine M, Swanson, Phillip D, Tranchant, Christine, Vidailhet, Marie, Winesett, Steven, Trouillard, Oriane, Amendola, Laura M, Dorschner, Michael O, Weiss, Michael, Eichler, Evan E, Torkamani, Ali, Roze, Emmanuel, Bird, Thomas D, Raskind, Wendy H

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Persistent CNS dysfunction in a boy with CMT1X von Siskind, Carly, Feely, Shawna M.E, Bernes, Saunder, Shy, Michael E, Garbern, James Y

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