Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Ethical deliberations on genetic testing in children and adolescentsRevista de neurologiá, 2013-09, Vol.57 (5), p.237-239 [Peer Reviewed Journal]EISSN: 1576-6578 ;PMID: 23975531Full text available |
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2 |
Material Type: Article
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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disordersNucleic acids research, 2015-01, Vol.43 (Database issue), p.D789-D798 [Peer Reviewed Journal]The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research. ;The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research. 2015 ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gku1205 ;PMID: 25428349Full text available |
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3 |
Material Type: Article
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An Expanded View of Complex Traits: From Polygenic to OmnigenicCell, 2017-06, Vol.169 (7), p.1177-1186 [Peer Reviewed Journal]2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2017.05.038 ;PMID: 28622505Full text available |
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4 |
Material Type: Article
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Cellular Senescence: Defining a Path ForwardCell, 2019-10, Vol.179 (4), p.813-827 [Peer Reviewed Journal]2019 Elsevier Inc. ;Copyright © 2019 Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.10.005 ;PMID: 31675495Full text available |
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5 |
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 |
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6 |
Material Type: Article
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesAmerican journal of human genetics, 2015-08, Vol.97 (2), p.199-215 [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 Aug 6, 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.2015.06.009 ;PMID: 26166479Full text available |
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7 |
Material Type: Article
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OMIM.org: leveraging knowledge across phenotype–gene relationshipsNucleic acids research, 2019-01, Vol.47 (D1), p.D1038-D1043 [Peer Reviewed Journal]The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research. 2019 ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gky1151 ;PMID: 30445645Full text available |
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8 |
Material Type: Article
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webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association studyNucleic acids research, 2022-01, Vol.50 (D1), p.D1123-D1130 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. 2022 ;The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkab957 ;PMID: 34669946Full text available |
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9 |
Material Type: Article
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The Human Disease Ontology 2022 updateNucleic acids research, 2022-01, Vol.50 (D1), p.D1255-D1261 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. 2022 ;The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkab1063 ;PMID: 34755882Full text available |
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10 |
Material Type: Article
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataNucleic acids research, 2014-01, Vol.42 (Database issue), p.D966-D974 [Peer Reviewed Journal]The Author(s) 2013. Published by Oxford University Press. 2013 ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkt1026 ;PMID: 24217912Full text available |
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11 |
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 |
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12 |
Material Type: Article
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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT SyndromeCirculation (New York, N.Y.), 2020-02, Vol.141 (6), p.418-428 [Peer Reviewed Journal]2020 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;2020 The Authors. 2020 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.119.043132 ;PMID: 31983240Full text available |
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13 |
Material Type: Article
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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 |
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14 |
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 |
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15 |
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 |
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16 |
Material Type: Article
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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 |
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17 |
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 |
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18 |
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 |
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19 |
Material Type: Article
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LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysisBioinformatics (Oxford, England), 2017-01, Vol.33 (2), p.272-279 [Peer Reviewed Journal]The Author 2016. Published by Oxford University Press. ;The Author 2016. Published by Oxford University Press. 2016 ;ISSN: 1367-4803 ;EISSN: 1367-4811 ;DOI: 10.1093/bioinformatics/btw613 ;PMID: 27663502Full text available |
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20 |
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 |