Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center von Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.

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Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype von Ulm, Elizabeth A., Nagaraj, Chinmayee B., Tian, Cuixia, Smolarek, Teresa A.

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Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors von Pickart, Angela M, Martin, Ann S, Gross, Brianna N, Dellefave-Castillo, Lisa M, McCallen, Leslie M, Nagaraj, Chinmayee B, Rippert, Alyssa L, Schultz, Catherine P, Ulm, Elizabeth A, Armstrong, Niki

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Developmental functions for the Caenorhabditis elegans Sp protein SPTF-3 von Ulm, Elizabeth A., Sleiman, Sama F., Chamberlin, Helen M.

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Pak1 as a novel therapeutic target for antihypertrophic treatment in the heart von Liu, Wei, Zi, Min, Naumann, Ronald, Ulm, Susanne, Jin, Jiawei, Taglieri, Domenico M, Prehar, Sukhpal, Gui, Junhong, Tsui, Hoyee, Xiao, Rui-Ping, Neyses, Ludwig, Solaro, R John, Ke, Yunbo, Cartwright, Elizabeth J, Lei, Ming, Wang, Xin

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Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study von Serpente, M, Fenoglio, C, Arcaro, M, Carandini, T, Sacchi, L, Pintus, M, Rotondo, E, Borracci, V, Ghezzi, L, Bouzigues, A, Russell, LL, Foster, PH, Ferry-Bolder, E, van Swieten, JC, Jiskoot, LC, Seelaar, H, Sánchez Valle, R, Laforce, R, Graff, C, Vandenberghe, R, de Mendonça, A, Tiraboschi, P, Santana, I, Gerhard, A, Levin, J, Sorbi, S, Otto, M, Pasquier, F, Ducharme, S, Butler, CR, Le Ber, I, Finger, E, Tartaglia, MC, Masellis, M, Rowe, JB, Synofzik, M, Moreno, F, Borroni, B, Rohrer, JD, Arighi, A, Galimberti, D

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Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report von Arroyo, Monica S, Fuller, Christine, Schorry, Elizabeth K, Ulm, Elizabeth, Tian, Cuixia

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Retrograde bladder filling after robotic-assisted endometrial cancer staging von Zhang, Naixin, Tarsi, Elizabeth, Wilson, Benjamin, Blackburn, Patrick, Redfern, Tiffany, ElNaggar, Adam, Ulm, Michael, Tillmanns, Todd, Reed, Mark

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The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2 von Amir, Fatima, Atzinger, Carrie, Massey, Keith, Greinwald, John, Hunter, Lisa L., Ulm, Elizabeth, Kettler, Margaret

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An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders von Rosenberg, Amanda, Tian, Cuixia, He, Hua, Ulm, Elizabeth, Collins Ruff, Kathleen, B Nagaraj, Chinmayee

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Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory von Wakefield, Emily, Keller, Haley, Mianzo, Hannah, Nagaraj, Chinmayee B., Tawde, Sanjukta, Ulm, Elizabeth

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An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers von Premi, E, Costa, T, Gazzina, S, Benussi, A, Cauda, F, Gasparotti, R, Archetti, S, Alberici, A, van Swieten, JC, Sanchez-Valle, R, Moreno, F, Santana, I, Laforce, R, Ducharme, S, Graff, C, Galimberti, D, Masellis, M, Tartaglia, C, Rowe, JB, Finger, E, Tagliavini, F, de Mendonca, A, Vandenberghe, R, Gerhard, A, Butler, CR, Danek, A, Synofzik, M, Levin, J, Otto, M, Ghidoni, R, Frisoni, G, Sorbi, S, Peakman, G, Todd, E, Bocchetta, M, Rohrer, JD, Borroni, B

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Community partnerships are fundamental to ethical ancient DNA research von Kowal, Emma, Weyrich, Laura S., Argüelles, Juan Manuel, Bader, Alyssa C., Colwell, Chip, Cortez, Amanda Daniela, Davis, Jenny L., Figueiro, Gonzalo, Fox, Keolu, Malhi, Ripan S., Matisoo-Smith, Elizabeth, Nayak, Ayushi, Nelson, Elizabeth A., Nicholas, George, Nieves-Colón, Maria A., Russell, Lynette, Ulm, Sean, Vergara-Silva, Francisco, Villanea, Fernando A., Wagner, Jennifer K., Yracheta, Joseph M., Tsosie, Krystal S.

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Targeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction von Ulm, Susanne, Liu, Wei, Zi, Min, Tsui, Hoyee, Chowdhury, Sanjoy K, Endo, Shogo, Satoh, Yasushi, Prehar, Sukhpal, Wang, Ruoxi, Cartwright, Elizabeth J, Wang, Xin

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Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings von Sulmonte, Laura A.G., Bisordi, Katharine, Ulm, Elizabeth, Nusbaum, Rachel

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Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period von Ulm, Elizabeth, Feero, W. Gregory, Dineen, Richard, Charrow, Joel, Wicklund, Catherine

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A Phase I Study of LGD1069 in Adults with Advanced Cancer von RIZVI, N. A, MARSHALL, J. L, HAWKINS, M. J, DAHUT, W, NESS, E, TRUGLIA, J. A, LOEWEN, G, GILL, G. M, ULM, E. H, GEISER, R, JAUNAKAIS, D

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, Ijlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos P.N, van Lint, Alida E.M, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Sacoto, Maria J. Guillen, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Waisfisz, Quinten, Zwijnenburg, Petra J.G, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine H.C, Wanders, Ronald J.A, Waterham, Hans R, Cassiman, David, Vaz, Frederic M

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Pak1 as a Novel Therapeutic Target for Anti-Hypertrophic Treatment in the Heart von Liu, Wei, Zi, Min, Naumann, Ronald, Ulm, Susanne, Jin, Jiawei, Taglieri, Domenico M., Prehar, Sukhpal, Gui, Junhong, Tsui, Hoyee, Xiao, Rui-Ping, Neyses, Ludwig, Solaro, R. John, Ke, Yunbo, Cartwright, Elizabeth J., Lei, Ming, Wang, Xin

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Pakl as a Novel Therapeutic Target for Antihypertrophic Treatment in the Heart von WEI LIU, MIN ZI, NEYSES, Ludwig, JOHN SOLARO, R, YUNBO KE, CARTWRIGHT, Elizabeth J, MING LEI, XIN WANG, NAUMANN, Ronald, ULM, Susanne, JIAWEI JIN, TAGLIERI, Domenico M, PREHAR, Sukhpal, JUNHONG GUI, TSUI, Hoyee, XIAO, Rui-Ping

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