Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
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
Published in Neurology (01.10.2013)
Published in Neurology (01.10.2013)
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Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
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
Published in BMC bioinformatics (21.07.2014)
Published in BMC bioinformatics (21.07.2014)
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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
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.
Published in The Journal of molecular diagnostics : JMD (01.01.2019)
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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
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.
Published in Genetics in medicine (01.11.2013)
Published in Genetics in medicine (01.11.2013)
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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
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
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
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.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy
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.
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion
Lawlor, Michael W, DeChene, Elizabeth T, Roumm, Emily, Geggel, Amelia S, Moghadaszadeh, Behzad, Beggs, Alan H
Published in Human mutation (01.02.2010)
Published in Human mutation (01.02.2010)
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Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/[beta]-Cardiac Myosin (MYH7) Distal Myopathy
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
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)
Ottenheijm, Coen A.C., Hooijman, Pleuni, DeChene, Elizabeth T., Stienen, Ger J., Beggs, Alan H., Granzier, Henk
Published in Journal of structural biology (01.05.2010)
Published in Journal of structural biology (01.05.2010)
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PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism
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
Published in Epilepsy research (01.09.2018)
Published in Epilepsy research (01.09.2018)
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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
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
Published in The Journal of molecular diagnostics : JMD (01.03.2022)
Published in The Journal of molecular diagnostics : JMD (01.03.2022)
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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy
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
Published in JAMA network open (05.04.2019)
Published in JAMA network open (05.04.2019)
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Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations
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
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
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P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period
Bedoukian, Emma, Reichert, Sara, DeChene, Elizabeth, Heck, Alexandra, Hershey, Jennifer, McManus, Morgan, Marchese, Michelle, Mulchandani, Surabhi, Reynoso Santos, Francis Jeshira, Wild, K. Taylor, Wood, Kathleen, Conlin, Laura, Dulik, Matthew, Rajagopalan, Ramakrishnan, Spinner, Nancy, Krantz, Ian
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
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.
Published in Neurogenetics (01.05.2012)
Published in Neurogenetics (01.05.2012)
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The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence
Lehtokari, Vilma-Lotta, Greenleaf, Rebecca S, DeChene, Elizabeth T, Kellinsalmi, Mutsumi, Pelin, Katarina, Laing, Nigel G, Beggs, Alan H, Wallgren-Pettersson, Carina
Published in Neuromuscular disorders : NMD (01.03.2009)
Published in Neuromuscular disorders : NMD (01.03.2009)
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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
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
Published in Human genomics (19.07.2015)
Published in Human genomics (19.07.2015)
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Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation
Reichert, Sara L., Dechene, Elizabeth, Lulis, Lauren, Valverde, Kathleen, Conway, Laura, Dulik, Matthew
Published in Journal of genetic counseling (01.02.2024)
Published in Journal of genetic counseling (01.02.2024)
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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield
Yamamoto, Nobuko, Balciuniene, Jorune, Hartman, Tiffiney, Diaz-Miranda, Maria Alejandra, Bedoukian, Emma, Devkota, Batsal, Lawrence, Audrey, Golenberg, Netta, Patel, Maha, Tare, Archana, Chen, Robert, Schindler, Emma, Choi, Jiwon, Kaur, Maninder, Charles, Sarah, Chen, Jiani, Fanning, Elizabeth A., Dechene, Elizabeth, Cao, Kajia, Jill, Murrell R., Rajagopalan, Ramakrishnan, Bayram, Yavuz, Dulik, Matthew C., Germiller, John, Conlin, Laura K., Krantz, Ian D., Luo, Minjie
Published in The Journal of pediatrics (01.11.2023)
Published in The Journal of pediatrics (01.11.2023)
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