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Select item 28967071.

Roles of Titin in the Structure and Elasticity of the Sarcomere

Larissa Tskhovrebova, John Trinick

J Biomed Biotechnol. 2010; 2010: 612482. Published online 2010 Jun 21. doi: 10.1155/2010/612482

PMCID:: PMC2896707

Article PDF–1.7M

Select item 70338512.

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L. Hare, Paul James

J Am Heart Assoc. 2020 Jan 21; 9(2): e013346. Published online 2020 Jan 14. doi: 10.1161/JAHA.119.013346

PMCID:: PMC7033851

Article PDF–523K

Select item 64656603.

Exome sequencing in families with chronic central serous chorioretinopathy

Rosa L. Schellevis, Elon H. C. van Dijk, Myrte B. Breukink, Jan E. E. Keunen, Gijs W. E. Santen, Carel B. Hoyng, Eiko K. de Jong, Camiel J. F. Boon, Anneke I. den Hollander

Mol Genet Genomic Med. 2019 Apr; 7(4): e00576. Published online 2019 Feb 6. doi: 10.1002/mgg3.576

PMCID:: PMC6465660

Article PDF–660K

Select item 64618844.

Molecular heterogeneity and early metastatic clone selection in testicular germ cell cancer development

Lambert C. J. Dorssers, Ad J. M. Gillis, Hans Stoop, Ronald van Marion, Marleen M. Nieboer, Job van Riet, Harmen J. G. van de Werken, J. Wolter Oosterhuis, Jeroen de Ridder, Leendert H. J. Looijenga

Br J Cancer. 2019 Feb 19; 120(4): 444–452. Published online 2019 Feb 11. doi: 10.1038/s41416-019-0381-1

PMCID:: PMC6461884

Article PDF–1.5M

Select item 61055195.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, III, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony J. Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo A. Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair J. Corbett, Monique M. Ryan, Gina L. O'Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda A. Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

Ann Neurol. 2018 Jun; 83(6): 1105–1124. Published online 2018 Jul 27. doi: 10.1002/ana.25241

PMCID:: PMC6105519

Article PDF–13M

Select item 59286636.

Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations

Yao-Bin Zhu, Jie-Wei Luo, Fen Jiang, Gui Liu

Mol Med Rep. 2018 May; 17(5): 7073–7080. Published online 2018 Mar 16. doi: 10.3892/mmr.2018.8773

PMCID:: PMC5928663

Article PDF–2.2M

Select item 58493547.

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)

Yong Liu, Yu Cao, Yaxiong Li, Dongyun Lei, Lin Li, Zong Liu Hou, Shen Han, Mingyao Meng, Jianlin Shi, Yayong Zhang, Yi Wang, Zhaoyi Niu, Yanhua Xie, Benshan Xiao, Yuanfei Wang, Xiao Li, Lirong Yang, Wenju Wang, Lihong Jiang

Med Sci Monit. 2018; 24: 1340–1358. Published online 2018 Mar 5. doi: 10.12659/MSM.908923

PMCID:: PMC5849354

Article PDF–4.2M

Select item 57521718.

Clinical significance of interleukin-6 and inducible nitric oxide synthase in ketamine-induced cystitis

Chi-Jung Huang, Fa-Kung Lee, Shao-Kuan Chen, Chih-Cheng Chien, Sheng-Tang Wu, Yen-Chieh Wang

Int J Mol Med. 2018 Feb; 41(2): 836–844. Published online 2017 Nov 17. doi: 10.3892/ijmm.2017.3264

PMCID:: PMC5752171

Article PDF–1.1M

Select item 56358899.

Functional screening in human cardiac organoids reveals a metabolic mechanism for cardiomyocyte cell cycle arrest

Richard J. Mills, Drew M. Titmarsh, Xaver Koenig, Benjamin L. Parker, James G. Ryall, Gregory A. Quaife-Ryan, Holly K. Voges, Mark P. Hodson, Charles Ferguson, Lauren Drowley, Alleyn T. Plowright, Elise J. Needham, Qing-Dong Wang, Paul Gregorevic, Mei Xin, Walter G. Thomas, Robert G. Parton, Lars K. Nielsen, Bradley S. Launikonis, David E. James, David A. Elliott, Enzo R. Porrello, James E. Hudson

Proc Natl Acad Sci U S A. 2017 Oct 3; 114(40): E8372–E8381. Published online 2017 Sep 15. doi: 10.1073/pnas.1707316114

PMCID:: PMC5635889

Article PDF–1.8M

Select item 560174610.

Genomic variants link to hepatitis C racial disparities

Matthew M. Yeh, Sarag Boukhar, Benjamin Roberts, Nairanjana Dasgupta, Sayed S. Daoud

Oncotarget. 2017 Aug 29; 8(35): 59455–59475. Published online 2017 Aug 1. doi: 10.18632/oncotarget.19755

PMCID:: PMC5601746

Article PDF–6.3M

Select item 553146811.

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale

PLoS One. 2017; 12(7): e0181842. Published online 2017 Jul 27. doi: 10.1371/journal.pone.0181842

PMCID:: PMC5531468

Article PDF–1.7M

Select item 540521612.

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Najim Lahrouchi, Hariharan Raju, Elisabeth M. Lodder, Efstathios Papatheodorou, James S. Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R. Skinner, Jackie Crawford, Donald R. Love, Chee J. Pua, Bee Y. Soh, Jaydutt D. Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G. Winkel, Christian van der Werf, Yanushi D. Wijeyeratne, Greg Mellor, Jan Till, Marta C. Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A.M. Wilde, Stuart A. Cook, Connie R. Bezzina, Mary N. Sheppard, Elijah R. Behr

J Am Coll Cardiol. 2017 May 2; 69(17): 2134–2145. doi: 10.1016/j.jacc.2017.02.046

PMCID:: PMC5405216

Article PDF–1.0M

Select item 532489413.

A hypertrophic and dilated cardiomyopathic sudden cardiac death case; de novo mutations in TTN and SGCD genes

Çetin Lütfi Baydar, Minel Özen

Anatol J Cardiol. 2016 Nov; 16(11): 887–888. doi: 10.14744/AnatolJCardiol.2016.7270

PMCID:: PMC5324894

Article PDF–1.0M

Select item 532487114.

Author`s Reply

Çetin Lütfi Baydar

Anatol J Cardiol. 2017 Jan; 17(1): 77.

PMCID:: PMC5324871

Article PDF–62K

Select item 531229915.

Single-strand DNA library preparation improves sequencing of formalin-fixed and paraffin-embedded (FFPE) cancer DNA

Mathias Stiller, Antje Sucker, Klaus Griewank, Daniela Aust, Gustavo Bruno Baretton, Dirk Schadendorf, Susanne Horn

Oncotarget. 2016 Sep 13; 7(37): 59115–59128. Published online 2016 Jul 24. doi: 10.18632/oncotarget.10827

PMCID:: PMC5312299

Article PDF–5.5M

Select item 514968316.

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population

Chuphong Thongnak, Pornprot Limprasert, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Chonlaphat Sukasem, Wasun Chantratita

Dis Markers. 2016; 2016: 3684965. Published online 2016 Nov 28. doi: 10.1155/2016/3684965