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Select item 70570831.

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing

Ming‐Bao Ren, Xiao‐Rui Chai, Lin Li, Xin Wang, Chenghong Yin

Mol Genet Genomic Med. 2020 Mar; 8(3): e1150. Published online 2020 Jan 20. doi: 10.1002/mgg3.1150

PMCID:: PMC7057083

Article PDF–912K

Select item 70447472.

Genotyping and Copy Number Analysis of Immunoglobin Heavy Chain Variable Genes Using Long Reads

Michael Ford, Ehsan Haghshenas, Corey T. Watson, S. Cenk Sahinalp

iScience. 2020 Mar 27; 23(3): 100883. Published online 2020 Feb 4. doi: 10.1016/j.isci.2020.100883

Correction in:: iScience. 2020 Sep 25; 23(9): 101508.

PMCID:: PMC7044747

Article PDF–2.0M

Select item 70271953.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Article PDF–1.2M

Select item 70107674.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Article PDF–1.5M

Select item 69883655.

Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients

Roderick A. Yao, Oyediran Akinrinade, Marie Chaix, Seema Mital

BMC Med Genomics. 2020; 13: 11. Published online 2020 Jan 29. doi: 10.1186/s12920-020-0664-7

PMCID:: PMC6988365

Article PDF–1.4M

Select item 69784026.

LncRNA DLX6‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p

Bin Yang, Lin Jia, Hui Ren, Caibao Jin, Qingrong Ren, Haiyuan Zhang, Desheng Hu, Hao Zhang, Liu Hu, Tao Xie

Mol Genet Genomic Med. 2020 Jan; 8(1): e1017. Published online 2019 Nov 29. doi: 10.1002/mgg3.1017

PMCID:: PMC6978402

Article PDF–1.2M

Select item 69782577.

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto

Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036

PMCID:: PMC6978257

Article PDF–826K

Select item 69782378.

ALU transposition induces familial hypertrophic cardiomyopathy

Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova

Mol Genet Genomic Med. 2020 Jan; 8(1): e951. Published online 2019 Sep 30. doi: 10.1002/mgg3.951

PMCID:: PMC6978237

Article PDF–755K

Select item 69368229.

Lower S-adenosylmethionine levels and DNA hypomethylation of placental growth factor (PlGF) in placental tissue of early-onset preeclampsia-complicated pregnancies

Sandra G. Heil, Emilie M. Herzog, Pieter H. Griffioen, Bertrand van Zelst, Sten P. Willemsen, Yolanda B. de Rijke, Regine P. M. Steegers-Theunissen, Eric A. P. Steegers

PLoS One. 2019; 14(12): e0226969. Published online 2019 Dec 30. doi: 10.1371/journal.pone.0226969

PMCID:: PMC6936822

Article PDF–541K

Select item 691199710.

Lnc-TCL6 is a potential biomarker for early diagnosis and grade in liver-cirrhosis patients

Lei-Jia Li, Xiao-Ying Wu, Si-Wei Tan, Zi-Jun Xie, Xue-Mei Pan, Shun-Wen Pan, Wu-Ri-Na Bai, Hai-Jiao Li, Hui-Ling Liu, Jie Jiang, Bin Wu

Gastroenterol Rep (Oxf) 2019 Dec; 7(6): 434–443. Published online 2019 Oct 11. doi: 10.1093/gastro/goz050

PMCID:: PMC6911997

Article PDF–1.0M

Select item 685909611.

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

Article PDF–1.5M

Select item 680349812.

MicroRNA-300: A Transcellular Mediator in Exosome Regulates Melanoma Progression

Long Chen, Vega Windy Karisma, Huawen Liu, Li Zhong

Front Oncol. 2019; 9: 1005. Published online 2019 Oct 15. doi: 10.3389/fonc.2019.01005

PMCID:: PMC6803498

Article PDF–3.0M

Select item 668766513.

Functional characterization of a SNP (F51S) found in human alpha 1‐antitrypsin

Hong‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee

Mol Genet Genomic Med. 2019 Aug; 7(8): e819. Published online 2019 Jun 28. doi: 10.1002/mgg3.819

PMCID:: PMC6687665

Article PDF–924K

Select item 658215314.

β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity

Arjun S. Adhikari, Darshan V. Trivedi, Saswata S. Sarkar, Dan Song, Kristina B. Kooiker, Daniel Bernstein, James A. Spudich, Kathleen M. Ruppel

Nat Commun. 2019; 10: 2685. Published online 2019 Jun 18. doi: 10.1038/s41467-019-10555-9

PMCID:: PMC6582153

Article PDF–2.9M

Select item 653219415.

Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals

Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn, Pisit Tangkijvanich

BMC Med Genet. 2019; 20: 87. Published online 2019 May 22. doi: 10.1186/s12881-019-0823-x

PMCID:: PMC6532194

Article PDF–625K

Select item 648921316.

Genome-wide DNA methylation analysis revealed stable DNA methylation status during decidualization in human endometrial stromal cells

Ryo Maekawa, Isao Tamura, Masahiro Shinagawa, Yumiko Mihara, Shun Sato, Maki Okada, Toshiaki Taketani, Hiroshi Tamura, Norihiro Sugino

BMC Genomics. 2019; 20: 324. Published online 2019 Apr 29. doi: 10.1186/s12864-019-5695-0

Correction in:: BMC Genomics. 2024; 25: 343.

PMCID:: PMC6489213

Article PDF–2.9M

Select item 646056517.

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

Florence H. J. van Tienen, Patrick J. Lindsey, Miriam A. F. Kamps, Ingrid P. Krapels, Frans C. S. Ramaekers, Han G. Brunner, Arthur van den Wijngaard, Jos L. V. Broers

Eur J Hum Genet. 2019 Mar; 27(3): 389–399. Published online 2018 Nov 12. doi: 10.1038/s41431-018-0294-0

PMCID:: PMC6460565

Article PDF–1.0M

Select item 636944818.

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Caroline F. Wright, Ben West, Marcus Tuke, Samuel E. Jones, Kashyap Patel, Thomas W. Laver, Robin N. Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew T. Hattersley, Michael N. Weedon

Am J Hum Genet. 2019 Feb 7; 104(2): 275–286. Published online 2019 Jan 18. doi: 10.1016/j.ajhg.2018.12.015