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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Current Clinical Applications of In Vivo Gene Therapy with AAVsMolecular therapy, 2021-02, Vol.29 (2), p.464-488 [Peer Reviewed Journal]2020 The Authors ;Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved. ;2020 The Authors 2020 ;ISSN: 1525-0016 ;EISSN: 1525-0024 ;DOI: 10.1016/j.ymthe.2020.12.007 ;PMID: 33309881Full text available |
| 2 |
Material Type: Article
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The molecular basis and disease relevance of non-homologous DNA end joiningNature reviews. Molecular cell biology, 2020-12, Vol.21 (12), p.765-781 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/s41580-020-00297-8 ;PMID: 33077885Full text available |
| 3 |
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationThe New England journal of medicine, 2017-01, Vol.376 (1), p.21-31 [Peer Reviewed Journal]Copyright © 2016 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1516767 ;PMID: 27959697Full text available |
| 4 |
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersGenetics in medicine, 2016-11, Vol.18 (11), p.1090-1096 [Peer Reviewed Journal]2016 The Author(s) ;Copyright Nature Publishing Group Nov 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.1 ;PMID: 26938784Full text available |
| 5 |
Material Type: Article
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Genomic imprinting disorders: lessons on how genome, epigenome and environment interactNature reviews. Genetics, 2019-04, Vol.20 (4), p.235-248 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/s41576-018-0092-0 ;PMID: 30647469Full text available |
| 6 |
Material Type: Article
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ClinGen — The Clinical Genome ResourceThe New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242 [Peer Reviewed Journal]Copyright © 2015 Massachusetts Medical Society. All rights reserved. ;Copyright © 2015 Massachusetts Medical Society. 2015 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMsr1406261 ;PMID: 26014595Full text available |
| 7 |
Material Type: Article
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Piezos thrive under pressure: mechanically activated ion channels in health and diseaseNature reviews. Molecular cell biology, 2017-12, Vol.18 (12), p.771-783 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2017 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm.2017.92 ;PMID: 28974772Full text available |
| 8 |
Material Type: Article
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Clinical application of whole-exome sequencing across clinical indicationsGenetics in medicine, 2016-07, Vol.18 (7), p.696-704 [Peer Reviewed Journal]2016 The Author(s) ;Copyright Nature Publishing Group Jul 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2015.148 ;PMID: 26633542Full text available |
| 9 |
Material Type: Article
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The dynamics of mitochondrial DNA heteroplasmy: implications for human health and diseaseNature reviews. Genetics, 2015-09, Vol.16 (9), p.530-542 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2015 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg3966 ;PMID: 26281784Full text available |
| 10 |
Material Type: Article
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Mechanisms underlying structural variant formation in genomic disordersNature reviews. Genetics, 2016-04, Vol.17 (4), p.224-238 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2016 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg.2015.25 ;PMID: 26924765Full text available |
| 11 |
Material Type: Article
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesGenetics in medicine, 2017-02, Vol.19 (2), p.192-203 [Peer Reviewed Journal]2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;Copyright © 2017 Official journal of the American College of Medical Genetics and Genomics 2017 Official journal of the American College of Medical Genetics and Genomics ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.90 ;PMID: 27532257Full text available |
| 12 |
Material Type: Article
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Reanalysis of Clinical Exome Sequencing DataThe New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480 [Peer Reviewed Journal]Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMc1812033 ;PMID: 31216405Full text available |
| 13 |
Material Type: Article
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Evidence for 28 genetic disorders discovered by combining healthcare and research dataNature (London), 2020-10, Vol.586 (7831), p.757-762 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Oct 29, 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2832-5 ;PMID: 33057194Full text available |
| 14 |
Material Type: Article
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Genetic architecture: the shape of the genetic contribution to human traits and diseaseNature reviews. Genetics, 2018-02, Vol.19 (2), p.110-124 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Feb 2018 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg.2017.101 ;PMID: 29225335Full text available |
| 15 |
Material Type: Article
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Pluripotent stem cells in disease modelling and drug discoveryNature reviews. Molecular cell biology, 2016-03, Vol.17 (3), p.170-182 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2016 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm.2015.27 ;PMID: 26818440Full text available |
| 16 |
Material Type: Article
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The DNA damage response to transcription stressNature reviews. Molecular cell biology, 2019-12, Vol.20 (12), p.766-784 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2019 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/s41580-019-0169-4 ;PMID: 31558824Full text available |
| 17 |
Material Type: Article
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelGenetics in medicine, 2018-03, Vol.20 (3), p.351-359 [Peer Reviewed Journal]Copyright Nature Publishing Group Mar 2018 ;Copyright © 2018 The Author(s) 2018 The Author(s) ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.218 ;PMID: 29300372Full text available |
| 18 |
Material Type: Article
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Pleiotropy in complex traits: challenges and strategiesNature reviews. Genetics, 2013-07, Vol.14 (7), p.483-495 [Peer Reviewed Journal]COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2013 ;2013 Macmillan Publishers Limited. All rights reserved 2013 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg3461 ;PMID: 23752797Full text available |
| 19 |
Material Type: Article
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Diagnostic Clinical Genome and Exome SequencingThe New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425 [Peer Reviewed Journal]Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1312543 ;PMID: 24941179 ;CODEN: NEJMAGFull text available |
| 20 |
Material Type: Article
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Genic intolerance to functional variation and the interpretation of personal genomesPLoS genetics, 2013-08, Vol.9 (8), p.e1003709-e1003709 [Peer Reviewed Journal]COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Petrovski et al 2013 Petrovski et al ;2013 Petrovski 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: Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB (2013) Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes. PLoS Genet 9(8): e1003709. doi:10.1371/journal.pgen.1003709 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1003709 ;PMID: 23990802Full text available |
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