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Select item 69987461.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Article PDF–443K

Select item 69651142.

Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing

Marina V. Nemtsova, Alexey I. Kalinkin, Ekaterina B. Kuznetsova, Irina V. Bure, Ekaterina A. Alekseeva, Igor I. Bykov, Tatiana V. Khorobrykh, Dmitry S. Mikhaylenko, Alexander S. Tanas, Sergey I. Kutsev, Dmitry V. Zaletaev, Vladimir V. Strelnikov

Sci Rep. 2020; 10: 504. Published online 2020 Jan 16. doi: 10.1038/s41598-020-57544-3

PMCID:: PMC6965114

Article PDF–1.8M

Select item 68512653.

Genetic and Functional Variants Analysis of the GATA6 Gene Promoter in Acute Myocardial Infarction

Zhaoqing Sun, Shuchao Pang, Yinghua Cui, Bo Yan

Front Genet. 2019; 10: 1100. Published online 2019 Nov 6. doi: 10.3389/fgene.2019.01100

PMCID:: PMC6851265

Article PDF–2.7M

Select item 68286084.

Identification of two novel GATA6 mutations in an adult with acute myocardial infarction, diabetes, and atrial fibrillation: a case report

Zhao-Qing Sun, Ying-Hua Cui, Bo Yan

J Geriatr Cardiol. 2019 Oct; 16(10): 785–788. doi: 10.11909/j.issn.1671-5411.2019.10.009

PMCID:: PMC6828608

Article PDF–516K

Select item 68281385.

Correction to: Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing

Ji Won Lee, Jong-Yeon Shin, Jeong-Sun Seo

J Appl Genet. 2018; 59(3): 279–280. Published online 2018 Apr 24. doi: 10.1007/s13353-018-0442-9

Corrects:: J Appl Genet. 2018; 59(3): 269–277.

PMCID:: PMC6828138

Correction PDF–284K

Select item 67426466.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Article PDF–1.2M

Select item 66273967.

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

Carmela Fusco, Silvia Morlino, Lucia Micale, Alessandro Ferraris, Paola Grammatico, Marco Castori

Genes (Basel) 2019 Jun; 10(6): 442. Published online 2019 Jun 10. doi: 10.3390/genes10060442

PMCID:: PMC6627396

Article PDF–1.7M

Select item 66250308.

TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells

Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim

Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5

PMCID:: PMC6625030

Article PDF–2.1M

Select item 65030139.

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen

Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574

PMCID:: PMC6503013

Article PDF–1.2M

Select item 629997610.

Genomic alterations in gastric cancers discovered via whole-exome sequencing

Jie Zhang, Weiqing Qiu, Hua Liu, Changlin Qian, Dujuan Liu, Hailong Wang, Ni Hu, Y. Tom Tang, Jianhua Sun, Zhiyong Shen

BMC Cancer. 2018; 18: 1270. Published online 2018 Dec 19. doi: 10.1186/s12885-018-5097-8

PMCID:: PMC6299976

Article PDF–2.5M

Select item 628028711.

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients

Luize Bidina, Kaspars Kupics, Emma Sokolova, Mihails Pavlovics, Zane Dobele, Laima Caunite, Oskars Kalejs, Linda Gailite

Anatol J Cardiol. 2018 Nov; 20(5): 296–302. Published online 2018 Oct 26. doi: 10.14744/AnatolJCardiol.2018.35984

PMCID:: PMC6280287

Article PDF–101K

Select item 626085212.

EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis

Renjie Wang, Sai Zhang, Xuyi Chen, Nan Li, Jianwei Li, Ruichao Jia, Yuanqing Pan, Haiqian Liang

Mol Cancer. 2018; 17: 166. Published online 2018 Nov 23. doi: 10.1186/s12943-018-0911-0

Correction in:: Mol Cancer. 2020; 19: 153.

PMCID:: PMC6260852

Article PDF–7.1M

Select item 617617713.

Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma

Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren

Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.

PMCID:: PMC6176177

Article PDF–2.0M

Select item 613862714.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Whitney L. Wooderchak-Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein, Michelle Sorscher, Jennifer Mayer, Angela E. Scheuerle, Tracey Lewis, J. Fredrik Grimmer, Gresham T. Richter, Marcie A. Steeves, Angela E. Lin, David A. Stevenson, Pinar Bayrak-Toydemir

Eur J Hum Genet. 2018 Oct; 26(10): 1521–1536. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0196-1