Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy von Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.

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Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies von Muraresku, Colleen C., McCormick, Elizabeth M., Falk, Marni J.

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Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial von Madsen, Karen L., Buch, Astrid E., Cohen, Bruce H., Falk, Marni J., Goldsberry, Angela, Goldstein, Amy, Karaa, Amel, Koenig, Mary K., Muraresku, Colleen C., Meyer, Colin, O'Grady, Megan, Scaglia, Fernando, Shieh, Perry B., Vockley, Jerry, Zolkipli-Cunningham, Zarazuela, Haller, Ronald G., Vissing, John

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Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in... von MacMullen, Laura E., George-Sankoh, Ibrahim, Stanley, Katelynn, McCormick, Elizabeth M., Muraresku, Colleen C., Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease von Wang, Jing, Balciuniene, Jorune, Diaz-Miranda, Maria Alejandra, McCormick, Elizabeth M., Aref-Eshghi, Erfan, Muir, Alison M., Cao, Kajia, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, Zolkipli-Cunningham, Zarazuela, Goldstein, Amy, Ganetzky, Rebecca D., Muraresku, Colleen C., Peterson, James T., Spinner, Nancy B., Wallace, Douglas C., Dulik, Matthew C., Falk, Marni J.

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Mitochondrial Genomics: A Complex Field Now Coming of Age von McCormick, Elizabeth M., Muraresku, Colleen C., Falk, Marni J.

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Development of a Mitochondrial Myopathy‐Composite Assessment Tool von Flickinger, Jean, Fan, Jiaxin, Wellik, Amanda, Ganetzky, Rebecca, Goldstein, Amy, Muraresku, Colleen C., Glanzman, Allan M., Ballance, Elizabeth, Leonhardt, Kristin, McCormick, Elizabeth M., Soreth, Brianna, Nguyen, Sara, Gornish, Jennifer, George‐Sankoh, Ibrahim, Peterson, James, MacMullen, Laura E., Vishnubhatt, Shailee, McBride, Michael, Haas, Richard, Falk, Marni J., Xiao, Rui, Zolkipli‐Cunningham, Zarazuela

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy von Pagnamenta, Alistair T., Kaiyrzhanov, Rauan, Zou, Yaqun, Da, Sahar, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P., Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A., Yip, Janice, Foley, A. Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M., Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C., Need, Anna C., Nemeth, Andrea H., Neuhaus, Sarah B., Norwood, Fiona, Marie, O., O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W., Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A., Tajsharghi, Homa, Bonnemann, Carsten G., Taylor, Jenny C., Houlden, Henry

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Best practices to convey complex information to patients with mitochondrial disease von McCormick, Elizabeth M., Muraresku, Colleen C., Falk, Marni J.

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Expanding Genetic Counselor Roles: A Model for Global Research Development von Muraresku, Colleen C, McCormick, Elizabeth M, Rockart, Lydia, Blaine Crowley, T, Asher, Stephanie, Back, Amanda, Baldino, Sarah M, Bedoukian, Emma, Britt, Allison D, Burrill, Natalie, Cacioppo, Cara, Clark, Dana Farengo, Clark, Mary Egan, Conway, Laura, Dratch, Laynie, Dubbs, Holly A, Engelhardt, Nicole M, Ginn, Natalie, Gray, Christopher, Hartman, Tiff, Hathaway, Evan R, Helbig, Katherine L, Hoffman-Andrews, Lily, Kasperski, Stefanie, Keena, Beth A, Keller, Kierstin N, Long, Jessica M, Lulis, Lauren, Lusk, Laina, McGinn, Daniel E, Mueller, Rebecca, Paul, Rache A, Pilchman, Lisa, Powers, Jacquelyn, Raible, Sarah E, Reichert, Sara, Rippert, Alyssa L, Arnold, Angela G, Ruggiero, Sarah M, Schindewolf, Erica, Sullivan, Katie Rose, Terek, Shannon, Wang, Bekah, Wells, McKenzie, Wisniewski, Natalia, Wright, Renee, Wood, Elisabeth McCarty, Woyciechowski, Stacy, Zelley, Kristin, Valverde, Kathleen D, McDonald-McGinn, Donna M

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MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease von Shen, Lishuang, Diroma, Maria Angela, Gonzalez, Michael, Navarro-Gomez, Daniel, Leipzig, Jeremy, Lott, Marie T., van Oven, Mannis, Wallace, Douglas C., Muraresku, Colleen Clarke, Zolkipli-Cunningham, Zarazuela, Chinnery, Patrick F., Attimonelli, Marcella, Zuchner, Stephan, Falk, Marni J., Gai, Xiaowu

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Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature von Wild, K. Taylor, Goldstein, Amy C., Muraresku, Colleen, Ganetzky, Rebecca D.

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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes von Nomakuchi, Tomoki T., Teferedegn, Eden Y., Li, Dong, Muirhead, Kayla J., Dubbs, Holly, Leonard, Jacqueline, Muraresku, Colleen, Sergio, Emily, Arnold, Kaley, Pizzino, Amy, Skraban, Cara M., Zackai, Elaine H., Wang, Kai, Ganetzky, Rebecca D., Vanderver, Adeline L., Ahrens‐Nicklas, Rebecca C., Bhoj, Elizabeth J. K.

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Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care von Szigety, Katherine M, Crowley, Terrence B, Gaiser, Kimberly B, Chen, Erin Y, Priestley, Jessica R C, Williams, Lydia S, Rangu, Sneha A, Wright, Christina M, Adusumalli, Priyanka, Ahrens-Nicklas, Rebecca C, Calderon, Brandon, Cuddapah, Sanmati R, Edmondson, Andrew, Ficicioglu, Can, Ganetzky, Rebecca, Kalish, Jennifer M, Krantz, Ian D, McDonald-McGinn, Donna M, Medne, Livija, Muraresku, Colleen, Pyle, Louise C, Zackai, Elaine H, Campbell, Ian M, Sheppard, Sarah E

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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families von Ganapathi, Mythily, Friocourt, Gaelle, Gueguen, Naig, Friederich, Marisa W., Le Gac, Gerald, Okur, Volkan, Loaëc, Nadège, Ludwig, Thomas, Ka, Chandran, Tanji, Kurenai, Marcorelles, Pascale, Theodorou, Evangelos, Lignelli‐Dipple, Angela, Voisset, Cécile, Walker, Melissa A., Briere, Lauren C., Bourhis, Amélie, Blondel, Marc, LeDuc, Charles, Hagen, Jacob, Cooper, Cathleen, Muraresku, Colleen, Ferec, Claude, Garenne, Armelle, Lelez‐Soquet, Servane, Rogers, Cassandra A., Shen, Yufeng, Strode, Dana K., Bizargity, Peyman, Iglesias, Alejandro, Goldstein, Amy, High, Frances A., Network, Undiagnosed Diseases, Sweetser, David A., Ganetzky, Rebecca, Van Hove, Johan L. K., Procaccio, Vincent, Le Marechal, Cedric, Chung, Wendy K.

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Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level von Ahrens-Nicklas, Rebecca C., Serdaroglu, Esra, Muraresku, Colleen, Ficicioglu, Can

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