PMC Links for Nucleotide (Select 148596956) - PMC

Ivo F. A. C. Fokkema, Kasper J. van der Velde, Mariska K. Slofstra, Claudia A. L. Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaäc J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, Ruben J. G. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den Dunnen, Jeroen F. J. Laros, Morris A. Swertz, Marielle E. van Gijn

Hum Mutat. 2019 Dec; 40(12): 2230–2238. Published online 2019 Sep 3. doi: 10.1002/humu.23896

PMCID:: PMC6900155

Abstract Article PDF–875K

Select item 68651666.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype

EYAL REINSTEIN, SHAY TZUR, CONCETTA BORMANS, DORON M. BEHAR

Genet Res (Camb) 2016; 98: e8. Published online 2016 May 13. doi: 10.1017/S0016672316000045

PMCID:: PMC6865166

Abstract Article PDF–146K

Select item 68590967.

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

Jih-Kai Yeh, Wei-Hsiu Liu, Chao-Yung Wang, Jang-Jih Lu, Chien-Hsiun Chen, Yah-Huei Wu-Chou, Pi-Yueh Chang, Shih-Cheng Chang, Chia-Hung Yang, Ming-Lung Tsai, Ming-Yun Ho, I-Chang Hsieh, Ming-Shien Wen

Acta Cardiol Sin. 2019 Nov; 35(6): 571–584. doi: 10.6515/ACS.201911_35(6).20190402A

PMCID:: PMC6859096

Abstract Article PDF–1.5M

Select item 67523098.

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

Francesco Mazzarotto, Francesca Girolami, Beatrice Boschi, Fausto Barlocco, Alessia Tomberli, Katia Baldini, Raffaele Coppini, Ilaria Tanini, Sara Bardi, Elisa Contini, Franco Cecchi, Elisabetta Pelo, Stuart A. Cook, Elisabetta Cerbai, Corrado Poggesi, Francesca Torricelli, Roddy Walsh, Iacopo Olivotto

Genet Med. 2019; 21(2): 284–292. Published online 2018 Jun 6. doi: 10.1038/s41436-018-0046-0

PMCID:: PMC6752309

Abstract Article PDF–1.2M

Select item 67522749.

Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

Tia Moscarello, Brittney Murray, Chloe M. Reuter, Erin Demo

Genet Med. 2019; 21(3): 539–541. Published online 2018 Jul 12. doi: 10.1038/s41436-018-0097-2

PMCID:: PMC6752274

Article PDF–210K

Select item 673136110.

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting

Adam S. Gordon, Elisabeth A. Rosenthal, David S. Carrell, Laura M. Amendola, Michael O. Dorschner, Aaron Scrol, Ian B. Stanaway, Shannon DeVange, James D. Ralston, Hana Zouk, Heidi L. Rehm, Eric Larson, David R. Crosslin, Kathy A. Leppig, Gail P. Jarvik

Am J Hum Genet. 2019 Sep 5; 105(3): 526–533. Published online 2019 Aug 15. doi: 10.1016/j.ajhg.2019.07.012

PMCID:: PMC6731361

Abstract Article PDF–308K

Select item 670610611.

A multiplex PCR strategy to screen for known mutations in families with sudden cardiac death burden

Giang Duong, Thomas M. Helms, Christoph A. Karle

J Biol Methods. 2017; 4(3): e78. Published online 2017 Jul 3. doi: 10.14440/jbm.2017.181

PMCID:: PMC6706106

Abstract Article PDF–2.8M

Select item 668766612.

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

Anna Gaertner‐Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann‐Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T. Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting

Mol Genet Genomic Med. 2019 Aug; 7(8): e841. Published online 2019 Jul 10. doi: 10.1002/mgg3.841

PMCID:: PMC6687666

Abstract Article PDF–2.0M

Select item 666013413.

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

Lucie Carrier, Giulia Mearini, Konstantina Stathopoulou, Friederike Cuello

Gene. Author manuscript; available in PMC 2019 Jul 26.

Published in final edited form as: Gene. 2015 Dec 1; 573(2): 188–197. Published online 2015 Sep 8. doi: 10.1016/j.gene.2015.09.008

PMCID:: PMC6660134

Abstract Article PDF–589K

Select item 653332614.

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

I. Christiaans, O. R. F. Mook, M. Alders, H. Bikker, R. H. Lekanne dit Deprez

Neth Heart J. 2019 Jun; 27(6): 299–303. Published online 2019 Mar 7. doi: 10.1007/s12471-019-1251-4

PMCID:: PMC6533326

Abstract Article PDF–212K

Select item 650726815.

Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?

Alexandra Sousa, Paulo Canedo, Manuel Campelo, Brenda Moura, Sérgio Leite, Márcia Baixia, Adriana Belo, Francisco Rocha-Gonçalves, José Carlos Machado, José Silva-Cardoso, Elisabete Martins, FATIMA Investigators

Cardiol Res Pract. 2019; 2019: 2743650. Published online 2019 Apr 24. doi: 10.1155/2019/2743650

PMCID:: PMC6507268

Abstract Article PDF–1.7M

Select item 650526316.

Weighted gene co-expression network analysis to explain the relationship between plasma total carotenoids and lipid profile

Bénédicte L. Tremblay, Frédéric Guénard, Benoît Lamarche, Louis Pérusse, Marie-Claude Vohl

Genes Nutr. 2019; 14: 16. Published online 2019 May 8. doi: 10.1186/s12263-019-0639-5

PMCID:: PMC6505263

Abstract Article PDF–1.0M

Select item 633684117.

1 in 38 individuals at risk of a dominant medically actionable disease

Lonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T. Vulto-van Silfhout, Christian Gilissen, Han G. Brunner, Lisenka E. L. M. Vissers, Helger G. Yntema

Eur J Hum Genet. 2019 Feb; 27(2): 325–330. Published online 2018 Oct 5. doi: 10.1038/s41431-018-0284-2

PMCID:: PMC6336841

Abstract Article PDF–523K

Select item 632341718.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan-Birsoy, Jaclyn B. Murry, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Shawn Fayer, Casie A. Genetti, Talia S. Schwartz, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Heidi L. Rehm, Alan H. Beggs, The BabySeq Project Team

Am J Hum Genet. 2019 Jan 3; 104(1): 76–93. Published online 2019 Jan 3. doi: 10.1016/j.ajhg.2018.11.016

PMCID:: PMC6323417

Abstract Article PDF–412K

Select item 629886619.

Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells

Ning Ma, Joe Zhang, Ilanit Itzhaki, Sophia L. Zhang, Haodong Chen, Francois Haddad, Tomoya Kitani, Kitchener D. Wilson, Lei Tian, Rajani Shrestha, Haodi Wu, Chi Keung Lam, Nazish Sayed, Joseph C. Wu

Circulation. Author manuscript; available in PMC 2019 Dec 4.

Published in final edited form as: Circulation. 2018 Dec 4; 138(23): 2666–2681. doi: 10.1161/CIRCULATIONAHA.117.032273

PMCID:: PMC6298866

Abstract Article PDF–1.5M

Select item 611796720.

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang

J Transl Med. 2018; 16: 241. Published online 2018 Aug 30. doi: 10.1186/s12967-018-1605-5

PMCID:: PMC6117967

Abstract Article PDF–842K

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Bombina bombina isolate aBomBom1 chromosome 3, aBomBom1.pri, whole genome shotgu...
Bombina bombina isolate aBomBom1 chromosome 3, aBomBom1.pri, whole genome shotgun sequence
gi|2429128564|gnl|ASM:GCF_027579745 |ref|NC_069501.1||gpp|GPC_000015875.1||gnl|NCBI_GENOMES|131242

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