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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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses von Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium von Berg, Jonathan S., Amendola, Laura M., Eng, Christine, Van Allen, Eliezer, Gray, Stacy W., Wagle, Nikhil, Rehm, Heidi L., DeChene, Elizabeth T., Dulik, Matthew C., Hisama, Fuki M., Burke, Wylie, Spinner, Nancy B., Garraway, Levi, Green, Robert C., Plon, Sharon, Evans, James P., Jarvik, Gail P.

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Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology von Masino, Aaron J, Dechene, Elizabeth T, Dulik, Matthew C, Wilkens, Alisha, Spinner, Nancy B, Krantz, Ian D, Pennington, Jeffrey W, Robinson, Peter N, White, Peter S

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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss von Chen, Robert, Diaz‐Miranda, Maria Alejandra, Aref‐Eshghi, Erfan, Hartman, Tiffiney R., Griffith, Christopher, Morrison, Jennifer L., Wheeler, Patricia G., Torti, Erin, Richard, Gabriele, Kenna, Margaret, Dechene, Elizabeth T., Spinner, Nancy B., Bai, Renkui, Conlin, Laura K., Krantz, Ian D., Amr, Sami S., Luo, Minjie

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss von Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.

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Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy von Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.

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Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/[beta]-Cardiac Myosin (MYH7) Distal Myopathy von Lamont, Phillipa J, Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C, Bonneman, Carsten, Boycott, Kym M, Bushby, Kate, Connolly, Anne M, Davies, Nicholas, Beggs, Alan H, Cox, Gerald F, Dastgir, Jahannaz, DeChene, Elizabeth T, Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttila, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter YK, Vilchez, Juan J, Wagner, Kathryn R, Wheeler, Patricia G, Wraige, Elizabeth, Laing, Nigel G

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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion von Lawlor, Michael W, DeChene, Elizabeth T, Roumm, Emily, Geggel, Amelia S, Moghadaszadeh, Behzad, Beggs, Alan H

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Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2) von Ottenheijm, Coen A.C., Hooijman, Pleuni, DeChene, Elizabeth T., Stienen, Ger J., Beggs, Alan H., Granzier, Henk

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PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism von Romasko, Edward J., DeChene, Elizabeth T., Balciuniene, Jorune, Akgumus, Gozde T., Helbig, Ingo, Tarpinian, Jennifer M., Keena, Beth A., Vogiatzi, Maria G., Zackai, Elaine H., Izumi, Kosuke, Massey, Shavonne L., Tayoun, Ahmad N. Abou

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? von Murrell, Jill R, Nesbitt, Addie May I, Baker, Samuel W, Pechter, Kieran B, Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H, DeChene, Elizabeth T, Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D, Dulik, Matthew C, Conlin, Laura K, Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H, Bedoukian, Emma C, Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M, Deardorff, Matthew A, Medne, Livija, Krantz, Ian D, Krock, Bryan L, Santani, Avni B

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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy von Balciuniene, Jorune, DeChene, Elizabeth T, Akgumus, Gozde, Romasko, Edward J, Cao, Kajia, Dubbs, Holly A, Mulchandani, Surabhi, Spinner, Nancy B, Conlin, Laura K, Marsh, Eric D, Goldberg, Ethan, Helbig, Ingo, Sarmady, Mahdi, Abou Tayoun, Ahmad

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Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations von Hershkovitz, Tova, Kurolap, Alina, Ruhrman‐Shahar, Noa, Monakier, Daniel, DeChene, Elizabeth T., Peretz‐Amit, Gabriela, Funke, Birgit, Zucker, Nili, Hirsch, Rafael, Tan, Wen‐Hann, Baris Feldman, Hagit

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Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores von Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.

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The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence von Lehtokari, Vilma-Lotta, Greenleaf, Rebecca S, DeChene, Elizabeth T, Kellinsalmi, Mutsumi, Pelin, Katarina, Laing, Nigel G, Beggs, Alan H, Wallgren-Pettersson, Carina

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death von Li, Mindy H, Abrudan, Jenica L, Dulik, Matthew C, Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T, Deardorff, Matthew A, Wilkens, Alisha, Noon, Sarah E, Scarano, Maria I, Santani, Avni B, White, Peter S, Pennington, Jeffrey, Conlin, Laura K, Spinner, Nancy B, Krantz, Ian D, Vetter, Victoria L

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Molecular Diagnostic Outcomes from 700 Cases von Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P, Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A, Haseeb, Abdul, Angelozzi, Marco, Santen, G.W.E, Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Ortiz, Damara, Lancaster, Emily, Krantz, Ian D, Krock, Bryan L, Pechter, Kieran B, Arkader, Alexandre, Medne, Livija, DeChene, Elizabeth T, Calpena, Eduardo, Melistaccio, Giada, Wilkie, Andrew O.M, Suri, Mohnish, Foulds, Nicola, Begtrup, Amber, Henderson, Lindsay B, Forster, Cara, Reed, Patrick, McDonald, Marie T, McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Tsai, Anne C.H, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogne, Benjamin, Isidor, Bertrand, Martin-Coignard, Dominique, Stoeva, Radka, Lefebvre, Veronique, Le Caignec, Cedric

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Mutations in the Satellite Cell Gene MEGF10 Cause a Recessive Congenital Myopathy with Minicores von Mahoney, Lane J, Myers, Jennifer A, Estrella, Elicia A, Duncan, Anna R, Dey, Friederike, DeChene, Elizabeth T, Blasko-Goehringer, Jessica M, Bönnemann, Carsten G, Mendell, Jerry R, Nishino, Ichizo, Boyden, Steven Edward, Kawahara, Genri, Mitsuhashi, Satomi, Darras, Basil T, Lidov, Hart G.W, Beggs, Alan Hendrie, Kunkel, Louis Martens, Kang, Peter Byung-Hoon

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