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Peer-reviewed Journals (480)

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1	Material Type: Article	Transcriptome and genome sequencing uncovers functional variation in humans Nature (London), 2013-09, Vol.501 (7468), p.506-511 [Peer Reviewed Journal] Copyright Nature Publishing Group Sep 26, 2013 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/nature12531 ;PMID: 24037378 ;CODEN: NATUAS Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Genetic diagnosis of Mendelian disorders via RNA sequencing Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824 [Peer Reviewed Journal] Copyright Nature Publishing Group Jun 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms15824 ;PMID: 28604674 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	MicroRNA-21-Dependent Macrophage-to-Fibroblast Signaling Determines the Cardiac Response to Pressure Overload Circulation (New York, N.Y.), 2021-04, Vol.143 (15), p.1513-1525 [Peer Reviewed Journal] 2021 The Authors. 2021 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/circulationaha.120.050682 ;PMID: 33550817 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement American journal of human genetics, 2016-11, Vol.99 (5), p.1005-1014 [Peer Reviewed Journal] 2016 The Authors ;Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Nov 3, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 The Authors 2016 ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.08.019 ;PMID: 27745832 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension Nature genetics, 2013-04, Vol.45 (4), p.440-444 [Peer Reviewed Journal] COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2550 ;PMID: 23416519 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682 [Peer Reviewed Journal] Elsevier Ltd ;2012 Elsevier Ltd ;2015 INIST-CNRS ;Copyright © 2012 Elsevier Ltd. All rights reserved. ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(12)61480-9 ;PMID: 23020937 ;CODEN: LANCAO Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores European heart journal, 2019-10, Vol.40 (37), p.3097-3107 [Peer Reviewed Journal] The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology. 2019 ;The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology. ;ISSN: 0195-668X ;EISSN: 1522-9645 ;DOI: 10.1093/eurheartj/ehz435 ;PMID: 31504448 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Discovery of sexual dimorphisms in metabolic and genetic biomarkers PLoS genetics, 2011-08, Vol.7 (8), p.e1002215 [Peer Reviewed Journal] COPYRIGHT 2011 Public Library of Science ;COPYRIGHT 2011 Public Library of Science ;Mittelstrass et al. 2011 ;2011 Mittelstrass et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Mittelstrass K, Ried JS, Yu Z, Krumsiek J, Gieger C, et al. (2011) Discovery of Sexual Dimorphisms in Metabolic and Genetic Biomarkers. PLoS Genet 7(8): e1002215. doi:10.1371/journal.pgen.1002215 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1002215 ;PMID: 21852955 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	A genome-wide perspective of genetic variation in human metabolism Nature genetics, 2010-02, Vol.42 (2), p.137-141 [Peer Reviewed Journal] 2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2010 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.507 ;PMID: 20037589 ;CODEN: NGENEC Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Epigenetics meets proteomics in an epigenome-wide association study with circulating blood plasma protein traits Nature communications, 2020-01, Vol.11 (1), p.15-12, Article 15 [Peer Reviewed Journal] 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-13831-w ;PMID: 31900413 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories Nature biotechnology, 2013-11, Vol.31 (11), p.1015-1022 [Peer Reviewed Journal] COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2013 ;ISSN: 1087-0156 ;ISSN: 1546-1696 ;EISSN: 1546-1696 ;DOI: 10.1038/nbt.2702 ;PMID: 24037425 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts Nature genetics, 2009-01, Vol.41 (1), p.47-55 [Peer Reviewed Journal] 2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.269 ;PMID: 19060911 ;CODEN: NGENEC Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum PLoS genetics, 2008-11, Vol.4 (11), p.e1000282-e1000282 [Peer Reviewed Journal] COPYRIGHT 2008 Public Library of Science ;Gieger et al. 2008 ;2008 Gieger et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Gieger C, Geistlinger L, Altmaier E, Hrabé de Angelis M, Kronenberg F, et al. (2008) Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum. PLoS Genet 4(11): e1000282. doi:10.1371/journal.pgen.1000282 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1000282 ;PMID: 19043545 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Comprehensive analysis of the mutation spectrum in 301 German ALS families Journal of neurology, neurosurgery and psychiatry, 2018-08, Vol.89 (8), p.817-827 [Peer Reviewed Journal] Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;2018 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0022-3050 ;ISSN: 1468-330X ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2017-317611 ;PMID: 29650794 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis American journal of human genetics, 2012-06, Vol.90 (6), p.1079-1087 [Peer Reviewed Journal] 2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 8, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.04.011 ;PMID: 22608499 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity The EMBO journal, 2018-06, Vol.37 (12), p.n/a [Peer Reviewed Journal] 2018 The Authors. Published under the terms of the CC BY 4.0 license ;2018 The Authors. Published under the terms of the CC BY 4.0 license. ;2018 EMBO ;ISSN: 0261-4189 ;EISSN: 1460-2075 ;DOI: 10.15252/embj.201798133 ;PMID: 29764980 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Congenital heart disease risk loci identified by genome-wide association study in European patients The Journal of clinical investigation, 2021-01, Vol.131 (2), p.1-18 [Peer Reviewed Journal] Copyright American Society for Clinical Investigation Jan 2021 ;2021 American Society for Clinical Investigation 2021 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci141837 ;PMID: 33201861 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease Nature genetics, 2013-02, Vol.45 (2), p.214-219 [Peer Reviewed Journal] COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2013 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2501 ;PMID: 23313956 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island American journal of human genetics, 2015-05, Vol.96 (5), p.826-831 [Peer Reviewed Journal] 2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 7, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.03.010 ;PMID: 25913036 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Association of circulating MR-proADM with all-cause and cardiovascular mortality in the general population: Results from the KORA F4 cohort study PloS one, 2022-01, Vol.17 (1), p.e0262330-e0262330 [Peer Reviewed Journal] COPYRIGHT 2022 Public Library of Science ;2022 Gar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Gar et al 2022 Gar et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0262330 ;PMID: 34990470 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 661 for All Library Resources

Copyright Nature Publishing Group Sep 26, 2013 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/nature12531 ;PMID: 24037378 ;CODEN: NATUAS

Copyright Nature Publishing Group Jun 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms15824 ;PMID: 28604674

2021 The Authors. 2021 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/circulationaha.120.050682 ;PMID: 33550817

COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2550 ;PMID: 23416519

Elsevier Ltd ;2012 Elsevier Ltd ;2015 INIST-CNRS ;Copyright © 2012 Elsevier Ltd. All rights reserved. ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(12)61480-9 ;PMID: 23020937 ;CODEN: LANCAO

The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology. 2019 ;The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology. ;ISSN: 0195-668X ;EISSN: 1522-9645 ;DOI: 10.1093/eurheartj/ehz435 ;PMID: 31504448

2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2010 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.507 ;PMID: 20037589 ;CODEN: NGENEC

COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2013 ;ISSN: 1087-0156 ;ISSN: 1546-1696 ;EISSN: 1546-1696 ;DOI: 10.1038/nbt.2702 ;PMID: 24037425

2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.269 ;PMID: 19060911 ;CODEN: NGENEC

2018 The Authors. Published under the terms of the CC BY 4.0 license ;2018 The Authors. Published under the terms of the CC BY 4.0 license. ;2018 EMBO ;ISSN: 0261-4189 ;EISSN: 1460-2075 ;DOI: 10.15252/embj.201798133 ;PMID: 29764980

Copyright American Society for Clinical Investigation Jan 2021 ;2021 American Society for Clinical Investigation 2021 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci141837 ;PMID: 33201861

COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2013 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2501 ;PMID: 23313956

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