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1
Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019
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Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019

Journal of clinical oncology, 2020-08, Vol.38 (24), p.2798-2811 [Peer Reviewed Journal]

2020 by American Society of Clinical Oncology 2020 American Society of Clinical Oncology ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/jco.20.00046 ;PMID: 32516092

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2
Therapeutic Implications of Germline Testing in Patients With Advanced Cancers
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Therapeutic Implications of Germline Testing in Patients With Advanced Cancers

Journal of clinical oncology, 2021-08, Vol.39 (24), p.2698-2709 [Peer Reviewed Journal]

Published by American Society of Clinical Oncology 2021 American Society of Clinical Oncology ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/JCO.20.03661 ;PMID: 34133209

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3
A robust benchmark for detection of germline large deletions and insertions
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A robust benchmark for detection of germline large deletions and insertions

Nature biotechnology, 2020-11, Vol.38 (11), p.1347-1355 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;ISSN: 1087-0156 ;EISSN: 1546-1696 ;DOI: 10.1038/s41587-020-0538-8 ;PMID: 32541955

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4
The promise and challenge of therapeutic genome editing
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The promise and challenge of therapeutic genome editing

Nature (London), 2020-02, Vol.578 (7794), p.229-236 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 13, 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-1978-5 ;PMID: 32051598

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5
Pan-cancer analysis of whole genomes
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Article
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Pan-cancer analysis of whole genomes

Nature (London), 2020-02, Vol.578 (7793), p.82-93 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;info:eu-repo/semantics/openAccess ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-1969-6 ;PMID: 32025007

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6
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

Clinical cancer research, 2017-06, Vol.23 (11), p.e38-e45 [Peer Reviewed Journal]

2017 American Association for Cancer Research. ;Copyright American Association for Cancer Research Inc Jun 1, 2017 ;ISSN: 1078-0432 ;EISSN: 1557-3265 ;DOI: 10.1158/1078-0432.CCR-17-0408 ;PMID: 28572266

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7
The landscape of genomic alterations across childhood cancers
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The landscape of genomic alterations across childhood cancers

Nature (London), 2018-03, Vol.555 (7696), p.321-327 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 15, 2018 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature25480 ;PMID: 29489754

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8
Evidence for 28 genetic disorders discovered by combining healthcare and research data
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Article
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Evidence for 28 genetic disorders discovered by combining healthcare and research data

Nature (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: 33057194

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9
Simultaneous generation and germline transmission of multiple gene mutations in rat using CRISPR-Cas systems
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Simultaneous generation and germline transmission of multiple gene mutations in rat using CRISPR-Cas systems

Nature biotechnology, 2013-08, Vol.31 (8), p.684-686 [Peer Reviewed Journal]

COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2013 ;ISSN: 1087-0156 ;EISSN: 1546-1696 ;DOI: 10.1038/nbt.2652 ;PMID: 23929337

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10
Differences between germline and somatic mutation rates in humans and mice
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Article
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Differences between germline and somatic mutation rates in humans and mice

Nature communications, 2017-05, Vol.8 (1), p.15183-15183, Article 15183 [Peer Reviewed Journal]

Copyright Nature Publishing Group May 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms15183 ;PMID: 28485371

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11
Integrative clinical genomics of metastatic cancer
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Article
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Integrative clinical genomics of metastatic cancer

Nature (London), 2017-08, Vol.548 (7667), p.297-303 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature23306 ;PMID: 28783718

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12
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study
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Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study

The lancet oncology, 2018-02, Vol.19 (2), p.169-180 [Peer Reviewed Journal]

2018 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license ;Copyright © 2018 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved. ;Copyright Elsevier Limited Feb 1, 2018 ;2018 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license 2018 ;ISSN: 1470-2045 ;EISSN: 1474-5488 ;DOI: 10.1016/S1470-2045(17)30891-4 ;PMID: 29337092

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13
Whole-genome landscape of pancreatic neuroendocrine tumours
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Article
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Whole-genome landscape of pancreatic neuroendocrine tumours

Nature (London), 2017-03, Vol.543 (7643), p.65-71 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2, 2017 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature21063 ;PMID: 28199314 ;CODEN: NATUAS

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14
Direct estimate of the rate of germline mutation in a bird
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Article
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Direct estimate of the rate of germline mutation in a bird

Genome research, 2016-09, Vol.26 (9), p.1211-1218 [Peer Reviewed Journal]

2016 Smeds et al.; Published by Cold Spring Harbor Laboratory Press. ;2016 ;ISSN: 1088-9051 ;ISSN: 1549-5469 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.204669.116 ;PMID: 27412854

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15
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
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Article
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Nature (London), 2020-10, Vol.586 (7831), p.763-768 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Oct 29, 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2819-2 ;PMID: 33057201

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16
Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019
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Article
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Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019

Journal of clinical oncology, 2021-05, Vol.39 (15), p.1631-1640 [Peer Reviewed Journal]

2021 by American Society of Clinical Oncology 2021 American Society of Clinical Oncology ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/JCO.20.02785 ;PMID: 33560870

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17
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma
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Article
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Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

Journal of clinical oncology, 2018-10, Vol.36 (28), p.2863-2871 [Peer Reviewed Journal]

2018 by American Society of Clinical Oncology 2018 American Society of Clinical Oncology ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/jco.2018.78.5204 ;PMID: 30113886

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18
Synaptic, transcriptional and chromatin genes disrupted in autism
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Article
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Synaptic, transcriptional and chromatin genes disrupted in autism

Nature (London), 2014-11, Vol.515 (7526), p.209-215 [Peer Reviewed Journal]

COPYRIGHT 2014 Nature Publishing Group ;COPYRIGHT 2014 Nature Publishing Group ;Copyright Nature Publishing Group Nov 13, 2014 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/nature13772 ;PMID: 25363760 ;CODEN: NATUAS

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19
Whole-genome characterization of chemoresistant ovarian cancer
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Article
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Whole-genome characterization of chemoresistant ovarian cancer

Nature (London), 2015-05, Vol.521 (7553), p.489-494 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14410 ;PMID: 26017449 ;CODEN: NATUAS

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20
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases
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Article
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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

Nature genetics, 2021-10, Vol.53 (10), p.1434-1442 [Peer Reviewed Journal]

2021. The Author(s). ;COPYRIGHT 2021 Nature Publishing Group ;The Author(s) 2021 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-021-00930-y ;PMID: 34594041

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