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1	Material Type: Article	Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Cell, 2020-02, Vol.180 (3), p.568-584.e23 [Peer Reviewed Journal] 2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0092-8674 ;ISSN: 1097-4172 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.12.036 ;PMID: 31981491 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Clinical genetics, 2016-03, Vol.89 (3), p.275-284 [Peer Reviewed Journal] 2015 The Authors. published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;2015 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12654 ;PMID: 26283276 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Meeting the challenges of implementing rapid genomic testing in acute pediatric care Genetics in medicine, 2018-12, Vol.20 (12), p.1554-1563 [Peer Reviewed Journal] 2018 The Author(s) ;Copyright Nature Publishing Group Dec 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2018.37 ;PMID: 29543227 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders Genetics in medicine, 2018-12, Vol.20 (12), p.1564-1574 [Peer Reviewed Journal] 2018 The Author(s) ;Copyright Nature Publishing Group Dec 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2018.39 ;PMID: 29595814 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics Genetics in medicine, 2017-02, Vol.19 (2), p.249-255 [Peer Reviewed Journal] 2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.190 ;PMID: 27854360 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature Genetics in medicine, 2019-01, Vol.21 (1), p.3-16 [Peer Reviewed Journal] 2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0024-6 ;PMID: 29760485 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness Genetics in medicine, 2019-01, Vol.21 (1), p.173-180 [Peer Reviewed Journal] 2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0006-8 ;PMID: 29765138 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability Genetics in medicine, 2016-09, Vol.18 (9), p.949-956 [Peer Reviewed Journal] Copyright Nature Publishing Group Sep 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2015.200 ;PMID: 26845106 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Genetics 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: 27532257 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals American journal of human genetics, 2019-08, Vol.105 (2), p.267-282 [Peer Reviewed Journal] 2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.05.020 ;PMID: 31327507 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Exome sequencing and characterization of 49,960 individuals in the UK Biobank Nature (London), 2020-10, Vol.586 (7831), p.749-756 [Peer Reviewed Journal] COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Oct 29, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2853-0 ;PMID: 33087929 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency Genetics in medicine, 2019-01, Vol.21 (1), p.243-251 [Peer Reviewed Journal] 2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;ISSN: 1530-0366 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0012-x ;PMID: 29921932 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies Genetics in medicine, 2017-03, Vol.19 (3), p.283-293 [Peer Reviewed Journal] 2017 The Author(s) ;Copyright Nature Publishing Group Mar 2017 ;Copyright © 2017 The Author(s) 2017 The Author(s) ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.109 ;PMID: 27584911 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility American journal of human genetics, 2020-08, Vol.107 (2), p.330-341 [Peer Reviewed Journal] 2020 American Society of Human Genetics ;Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.06.004 ;PMID: 32619401 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results Genetics in medicine, 2017-09, Vol.19 (9), p.1040-1048 [Peer Reviewed Journal] Copyright Nature Publishing Group Sep 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.224 ;PMID: 28252636 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) Genetics in medicine, 2020-04, Vol.22 (4), p.675-680 [Peer Reviewed Journal] 2020 The Author(s) ;American College of Medical Genetics and Genomics 2020. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0731-7 ;PMID: 31911674 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Targeted exome sequencing of unselected heavy‐ion beam‐irradiated populations reveals less‐biased mutation characteristics in the rice genome The Plant journal : for cell and molecular biology, 2019-04, Vol.98 (2), p.301-314 [Peer Reviewed Journal] 2019 The Authors published by John Wiley & Sons Ltd and Society for Experimental Biology. ;2019 The Authors The Plant Journal published by John Wiley & Sons Ltd and Society for Experimental Biology. ;Copyright © 2019 John Wiley & Sons Ltd and the Society for Experimental Biology ;ISSN: 0960-7412 ;EISSN: 1365-313X ;DOI: 10.1111/tpj.14213 ;PMID: 30584677 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders Genetics in medicine, 2018-10, Vol.20 (10), p.1216-1223 [Peer Reviewed Journal] 2018. 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. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.246 ;PMID: 29323667 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions Genetics in medicine, 2015-07, Vol.17 (7), p.578-586 [Peer Reviewed Journal] Copyright Nature Publishing Group Jul 2015 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2014.154 ;PMID: 25356970 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers Genetics in medicine, 2017-02, Vol.19 (2), p.209-214 [Peer Reviewed Journal] 2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.88 ;PMID: 27441994 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 14,063 for All Library Resources

2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0092-8674 ;ISSN: 1097-4172 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.12.036 ;PMID: 31981491

2018 The Author(s) ;Copyright Nature Publishing Group Dec 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2018.37 ;PMID: 29543227

2018 The Author(s) ;Copyright Nature Publishing Group Dec 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2018.39 ;PMID: 29595814

2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.190 ;PMID: 27854360

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0024-6 ;PMID: 29760485

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0006-8 ;PMID: 29765138

Copyright Nature Publishing Group Sep 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2015.200 ;PMID: 26845106

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Oct 29, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2853-0 ;PMID: 33087929

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;ISSN: 1530-0366 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0012-x ;PMID: 29921932

2017 The Author(s) ;Copyright Nature Publishing Group Mar 2017 ;Copyright © 2017 The Author(s) 2017 The Author(s) ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.109 ;PMID: 27584911

Copyright Nature Publishing Group Sep 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.224 ;PMID: 28252636

2020 The Author(s) ;American College of Medical Genetics and Genomics 2020. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0731-7 ;PMID: 31911674

2018. 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. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.246 ;PMID: 29323667

Copyright Nature Publishing Group Jul 2015 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2014.154 ;PMID: 25356970

2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.88 ;PMID: 27441994

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