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Select item 69538851.

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Madeline H. Kowalski, Huijun Qian, Ziyi Hou, Jonathan D. Rosen, Amanda L. Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K. Arnett, Christy Avery, Kathleen C. Barnes, Lewis C. Becker, Stephanie A. Bien, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Steve Buyske, Jianwen Cai, Michael H. Cho, Seung Hoan Choi, Hélène Choquet, L. Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S. de Vries, Patrick T. Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K. Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R. Heckbert, Bertha Hidalgo, Chani J. Hodonsky, Marguerite R. Irvin, Andrew D. Johnson, Eric Jorgenson, Robert Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Charles Kooperberg, Jessica A. Lasky-Su, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Caitlin P. McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C. Morrison, Nicholette D. Palmer, Nathan Pankratz, George J. Papanicolaou, Juan M. Peralta, Patricia A. Peyser, Stephen S. Rich, Jerome I. Rotter, Edwin K. Silverman, Jennifer A. Smith, Nicholas L. Smith, Kent D. Taylor, Timothy A. Thornton, Hemant K. Tiwari, Russell P. Tracy, Tao Wang, Scott T. Weiss, Lu-Chen Weng, Kerri L. Wiggins, James G. Wilson, Lisa R. Yanek, Sebastian Zöllner, Kari E. North, Paul L. Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M. Raffield, Alexander P. Reiner, Yun Li

PLoS Genet. 2019 Dec; 15(12): e1008500. Published online 2019 Dec 23. doi: 10.1371/journal.pgen.1008500

PMCID:: PMC6953885

Abstract Article PDF–1.0M

Select item 67426462.

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

Abstract Article PDF–1.2M

Select item 65828853.

Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human β-Globin Gene Suggests Possible Cause of β-Thalassemia

Talal Qadah, Mohammad Sarwar Jamal

Biomed Res Int. 2019; 2019: 9210841. Published online 2019 May 29. doi: 10.1155/2019/9210841

PMCID:: PMC6582885

Abstract Article PDF–3.0M

Select item 26697874.

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Sarah E. Calvo, David J. Pagliarini, Vamsi K. Mootha

Proc Natl Acad Sci U S A. 2009 May 5; 106(18): 7507–7512. Published online 2009 Apr 16. doi: 10.1073/pnas.0810916106

PMCID:: PMC2669787

Abstract Article PDF–468K

Select item 67907075.

A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major

Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Andreani Kyrri, Michael Hadjigavriel, Soteroula Christou, Maria Sitarou, Marina Kleanthous

Hum Mutat. 2019 Oct; 40(10): 1768–1780. Published online 2019 Jun 24. doi: 10.1002/humu.23817

PMCID:: PMC6790707

Abstract Article PDF–1.5M

Select item 67752316.

Development of a forward-oriented therapeutic lentiviral vector for hemoglobin disorders

Naoya Uchida, Matthew M. Hsieh, Lydia Raines, Juan J. Haro-Mora, Selami Demirci, Aylin C. Bonifacino, Allen E. Krouse, Mark E. Metzger, Robert E. Donahue, John F. Tisdale

Nat Commun. 2019; 10: 4479. Published online 2019 Oct 2. doi: 10.1038/s41467-019-12456-3

PMCID:: PMC6775231

Abstract Article PDF–2.2M

Select item 66883167.

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca, Sjarif Hidajat Effendi

BMC Med Genet. 2019; 20: 136. Published online 2019 Aug 9. doi: 10.1186/s12881-019-0868-x

PMCID:: PMC6688316

Abstract Article PDF–1.3M

Select item 65655448.

Genetics and genomic medicine in Sri Lanka

Nirmala D. Sirisena, Vajira H. W. Dissanayake

Mol Genet Genomic Med. 2019 Jun; 7(6): e744. Published online 2019 May 20. doi: 10.1002/mgg3.744

PMCID:: PMC6565544

Abstract Article PDF–769K

Select item 64656559.

Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening

Yuqin Luo, Bei Jia, Kai Yan, Siping Liu, Xiaojie Song, Mingfa Chen, Fan Jin, Yang Du, Juan Wang, Yan Hong, Sha Cao, Dawei Li, Minyue Dong

Mol Genet Genomic Med. 2019 Apr; 7(4): e00597. Published online 2019 Feb 14. doi: 10.1002/mgg3.597

PMCID:: PMC6465655

Abstract Article PDF–1.7M

Select item 636944810.

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

PMCID:: PMC6369448

Abstract Article PDF–574K

Select item 631298811.

Oxygen-laden mesenchymal stem cells enhance the effect of gastric cancer chemotherapy in vitro

Ya-Li Zhou, Yu-Min Li, Wen-Ting He

Oncol Lett. 2019 Jan; 17(1): 1245–1252. Published online 2018 Nov 7. doi: 10.3892/ol.2018.9670

PMCID:: PMC6312988

Abstract Article PDF–1.5M

Select item 604761512.

Identifying differentially expressed long non-coding RNAs in PBMCs in response to the infection of multidrug-resistant tuberculosis

Hong Yan, Rufeng Xu, Xiangrong Zhang, Qian Wang, Jing Pang, Xia Zhang, Xiaoai Chang, Yaqin Zhang

Infect Drug Resist. 2018; 11: 945–959. Published online 2018 Jul 13. doi: 10.2147/IDR.S154255

PMCID:: PMC6047615

Abstract Article PDF–2.7M

Select item 585891113.

Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis

Elizabeth Yang, Erin B. Voelkel, Kimberly Lezon-Geyda, Vincent P. Schulz, Patrick G. Gallagher

Pediatr Blood Cancer. Author manuscript; available in PMC 2018 Mar 19.

Published in final edited form as: Pediatr Blood Cancer. 2017 Aug; 64(8): 10.1002/pbc.26444. Published online 2017 Jan 25. doi: 10.1002/pbc.26444

PMCID:: PMC5858911

Abstract Article PDF–373K

Select item 564803814.

Cap-independent translation ensures mTOR expression and function upon protein synthesis inhibition

Ana Marques-Ramos, Marco M. Candeias, Juliane Menezes, Rafaela Lacerda, Margaret Willcocks, Alexandre Teixeira, Nicolas Locker, Luísa Romão

RNA. 2017 Nov; 23(11): 1712–1728. doi: 10.1261/rna.063040.117

PMCID:: PMC5648038

Abstract Article PDF–6.7M

Select item 563015815.

Sequence features of viral and human Internal Ribosome Entry Sites predictive of their activity

Alexey A. Gritsenko, Shira Weingarten-Gabbay, Shani Elias-Kirma, Ronit Nir, Dick de Ridder, Eran Segal

PLoS Comput Biol. 2017 Sep; 13(9): e1005734. Published online 2017 Sep 18. doi: 10.1371/journal.pcbi.1005734

PMCID:: PMC5630158

Abstract Article PDF–4.5M

Select item 550177216.

A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression

Diyu Chen, Yangjin Zuo, Xinhua Zhang, Yuhua Ye, Xiuqin Bao, Haiyan Huang, Wanicha Tepakhan, Lijuan Wang, Junyi Ju, Guangfu Chen, Mincui Zheng, Dun Liu, Shuodan Huang, Lu Zong, Changgang Li, Yajun Chen, Chenguang Zheng, Lihong Shi, Quan Zhao, Qiang Wu, Supan Fucharoen, Cunyou Zhao, Xiangmin Xu

Am J Hum Genet. 2017 Jul 6; 101(1): 130–138. Published online 2017 Jun 29. doi: 10.1016/j.ajhg.2017.05.012