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Items: 1 to 20 of 22

1.
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi
Genome Med. 2019; 11: 30. Published online 2019 May 17. doi: 10.1186/s13073-019-0639-5
PMCID:
PMC6525387
AbstractArticlePDF–1.5M
2.
Human Organ Tissue Identification by Targeted RNA Deep Sequencing to Aid the Investigation of Traumatic Injury
Erin Hanson, Jack Ballantyne
Genes (Basel) 2017 Nov; 8(11): 319. Published online 2017 Nov 10. doi: 10.3390/genes8110319
PMCID:
PMC5704232
AbstractArticlePDF–1.3M
3.
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing
Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto
PLoS One. 2016; 11(9): e0163362. Published online 2016 Sep 23. doi: 10.1371/journal.pone.0163362
PMCID:
PMC5035084
AbstractArticlePDF–1.4M
4.
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, Erika Pagannone, Beatrice Maria Musumeci, Maria Piane, Aldo Germani, Camilla Savio, Pietro Francia, Massimo Volpe, Camillo Autore, Luciana Chessa
Int J Mol Sci. 2016 Aug; 17(8): 1239. Published online 2016 Jul 30. doi: 10.3390/ijms17081239
PMCID:
PMC5000637
AbstractArticlePDF–229K
5.
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
PLoS Genet. 2016 Jan; 12(1): e1005679. Published online 2016 Jan 7. doi: 10.1371/journal.pgen.1005679
PMCID:
PMC4704781
AbstractArticlePDF–2.4M
6.
Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation
Saioa López, Isabel Smith-Zubiaga, Alicia García de Galdeano, María Dolores Boyano, Oscar García, Jesús Gardeazábal, Conrado Martinez-Cadenas, Neskuts Izagirre, Concepción de la Rúa, Santos Alonso
PLoS One. 2015; 10(8): e0134911. Published online 2015 Aug 5. doi: 10.1371/journal.pone.0134911
PMCID:
PMC4526690
AbstractArticlePDF–1.3M
7.
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy
Yue Zhao, Yue Feng, Yun-Mei Zhang, Xiao-Xue Ding, Yu-Zhu Song, A-Mei Zhang, Li Liu, Hong Zhang, Jia-Huan Ding, Xue-Shan Xia
Biomed Res Int. 2015; 2015: 561819. Published online 2015 Jun 24. doi: 10.1155/2015/561819
PMCID:
PMC4495182
AbstractArticlePDF–1.5M
8.
Censored Rank Independence Screening for High-dimensional Survival Data
Rui Song, Wenbin Lu, Shuangge Ma, X. Jessie Jeng
Biometrika. Author manuscript; available in PMC 2015 Feb 5.
Published in final edited form as: Biometrika. 2014; 101(4): 799–814. doi: 10.1093/biomet/asu047
PMCID:
PMC4318124
AbstractArticlePDF–2.0M
9.
Cardiac troponin I is abnormally expressed in non-small cell lung cancer tissues and human cancer cells
Chao Chen, Jia-Bao Liu, Zhi-Ping Bian, Jin-Dan Xu, Heng-Fang Wu, Chun-Rong Gu, Yi Shi, Ji-Nan Zhang, Xiang-Jian Chen, Di Yang
Int J Clin Exp Pathol. 2014; 7(4): 1314–1324. Published online 2014 Mar 15.
PMCID:
PMC4014212
AbstractArticlePDF–2.8M
10.
Effective Cardiac Myocyte Differentiation of Human Induced Pluripotent Stem Cells Requires VEGF
Lei Ye, Sophia Zhang, Lucas Greder, James Dutton, Susan A. Keirstead, Mike Lepley, Liying Zhang, Dan Kaufman, Jianyi Zhang
PLoS One. 2013; 8(1): e53764. Published online 2013 Jan 10. doi: 10.1371/journal.pone.0053764
PMCID:
PMC3542360
AbstractArticlePDF–941K
11.
High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians
Deepa Selvi Rani, Pratibha Nallari, Singh Priyamvada, Calambur Narasimhan, Lalji Singh, Kumarasamy Thangaraj
BMC Med Genet. 2012; 13: 69. Published online 2012 Aug 10. doi: 10.1186/1471-2350-13-69
PMCID:
PMC3495047
AbstractArticlePDF–851K
12.
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lança, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes
BMC Med Genet. 2012; 13: 17. Published online 2012 Mar 19. doi: 10.1186/1471-2350-13-17
PMCID:
PMC3359199
AbstractArticlePDF–1.5M
13.
5-Azacytidine Is Insufficient For Cardiogenesis In Human Adipose-Derived Stem Cells
Wan Kamarul Zaman Wan Safwani, Suzana Makpol, Somasundaram Sathapan, Kien Hui Chua
J Negat Results Biomed. 2012; 11: 3. Published online 2012 Jan 6. doi: 10.1186/1477-5751-11-3
PMCID:
PMC3274438
AbstractArticlePDF–4.1M
14.
Isolation and Characterization of Porcine Amniotic Fluid-Derived Multipotent Stem Cells
Jiahuan Chen, Zhijuan Lu, De Cheng, Sha Peng, Huayan Wang
PLoS One. 2011; 6(5): e19964. Published online 2011 May 19. doi: 10.1371/journal.pone.0019964
PMCID:
PMC3098286
AbstractArticlePDF–657K
15.
A novel custom resequencing array for dilated cardiomyopathy
Rebekah S. Zimmerman, Stephanie Cox, Neal K. Lakdawala, Allison Cirino, Debora Mancini-DiNardo, Eugene Clark, Annette Leon, Elizabeth Duffy, Emily White, Samantha Baxter, Manal Alaamery, Lisa Farwell, Scott Weiss, Christine E. Seidman, Jonathan G. Seidman, Carolyn Y. Ho, Heidi L. Rehm, Birgit H. Funke
Genet Med. Author manuscript; available in PMC 2011 Jan 11.
Published in final edited form as: Genet Med. 2010 May; 12(5): 268–278. doi: 10.1097/GIM.0b013e3181d6f7c0
PMCID:
PMC3018746
AbstractArticlePDF–100K
16.
Cardiac Troponin T, a Sarcomeric AKAP, Tethers Protein Kinase A at the Myofilaments
C. Amelia Sumandea, Mary L. Garcia-Cazarin, Catherine H. Bozio, Gail A. Sievert, C. William Balke, Marius P. Sumandea
J Biol Chem. 2011 Jan 7; 286(1): 530–541. Published online 2010 Nov 5. doi: 10.1074/jbc.M110.148684
PMCID:
PMC3013013
AbstractArticlePDF–2.0M
17.
Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications
Sivakumar Gowrisankar, Jordan P. Lerner-Ellis, Stephanie Cox, Emily T. White, Megan Manion, Kevin LeVan, Jonathan Liu, Lisa M. Farwell, Oleg Iartchouk, Heidi L. Rehm, Birgit H. Funke
J Mol Diagn. 2010 Nov; 12(6): 818–827. doi: 10.2353/jmoldx.2010.100014
PMCID:
PMC2963910
AbstractArticlePDF–588K
18.
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies
G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro
Acta Myol. 2010 Jul; 29(1): 1–20.
PMCID:
PMC2954584
AbstractArticlePDF–699K
19.
To Investigate Protein Evolution by Detecting Suppressed Epitope Structures
Stephen M. Chong, J.-P. Jin
J Mol Evol. Author manuscript; available in PMC 2009 Sep 25.
Published in final edited form as: J Mol Evol. 2009 May; 68(5): 448–460. Published online 2009 Apr 14. doi: 10.1007/s00239-009-9202-0
PMCID:
PMC2752406
AbstractArticlePDF–2.2M
20.
Inference of transcriptional regulation using gene expression data from the bovine and human genomes
Amonida Zadissa, John C McEwan, Chris M Brown
BMC Genomics. 2007; 8: 265. Published online 2007 Aug 3. doi: 10.1186/1471-2164-8-265
PMCID:
PMC1978505
AbstractArticlePDF–673K

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