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1
Mutational landscape and significance across 12 major cancer types
Mutational landscape and significance across 12 major cancer types
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Mutational landscape and significance across 12 major cancer types

Nature (London), 2013-10, Vol.502 (7471), p.333-339 [Peer Reviewed Journal]

COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Oct 17, 2013 ;The Author(s) 2013 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature12634 ;PMID: 24132290 ;CODEN: NATUAS

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2
The clonal and mutational evolution spectrum of primary triple―negative breast cancers
The clonal and mutational evolution spectrum of primary triple―negative breast cancers
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The clonal and mutational evolution spectrum of primary triple―negative breast cancers

Nature (London), 2012-06, Vol.486 (7403), p.395-399 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2012 Nature Publishing Group ;COPYRIGHT 2012 Nature Publishing Group ;Copyright Nature Publishing Group Jun 21, 2012 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature10933 ;PMID: 22495314 ;CODEN: NATUAS

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3
The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
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The mutational landscapes of genetic and chemical models of Kras-driven lung cancer

Nature (London), 2015-01, Vol.517 (7535), p.489-492 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Jan 22, 2015 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/nature13898 ;PMID: 25363767 ;CODEN: NATUAS

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4
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

American journal of human genetics, 2018-03, Vol.102 (3), p.487-493 [Peer Reviewed Journal]

2018 The Authors ;Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2018 The Authors 2018 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.01.021 ;PMID: 29478779

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5
The repertoire of mutational signatures in human cancer
The repertoire of mutational signatures in human cancer
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The repertoire of mutational signatures in human cancer

Nature (London), 2020-02, Vol.578 (7793), p.94-101 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-1943-3 ;PMID: 32025018

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6
A robust benchmark for detection of germline large deletions and insertions
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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7
A Compendium of Mutational Signatures of Environmental Agents
A Compendium of Mutational Signatures of Environmental Agents
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A Compendium of Mutational Signatures of Environmental Agents

Cell, 2019-05, Vol.177 (4), p.821-836.e16 [Peer Reviewed Journal]

2019 The Author(s) ;Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved. ;2019 The Author(s) 2019 ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.03.001 ;PMID: 30982602

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8
ALS Genetics: Gains, Losses, and Implications for Future Therapies
ALS Genetics: Gains, Losses, and Implications for Future Therapies
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ALS Genetics: Gains, Losses, and Implications for Future Therapies

Neuron (Cambridge, Mass.), 2020-12, Vol.108 (5), p.822-842 [Peer Reviewed Journal]

2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;2020. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2020.08.022 ;PMID: 32931756

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9
The landscape of genomic alterations across childhood cancers
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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10
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Nature (London), 2020-02, Vol.578 (7793), p.102-111 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Feb 6, 2020 ;The Author(s) 2020 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-1965-x ;PMID: 32025015

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11
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
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Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

Nature (London), 2016-05, Vol.533 (7603), p.420-424 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group May 19, 2016 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature17946 ;PMID: 27096365 ;CODEN: NATUAS

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12
Whole genomes redefine the mutational landscape of pancreatic cancer
Whole genomes redefine the mutational landscape of pancreatic cancer
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Whole genomes redefine the mutational landscape of pancreatic cancer

Nature (London), 2015-02, Vol.518 (7540), p.495-501 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Feb 26, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14169 ;PMID: 25719666 ;CODEN: NATUAS

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13
Synaptic, transcriptional and chromatin genes disrupted in autism
Synaptic, transcriptional and chromatin genes disrupted in autism
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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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14
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

American journal of human genetics, 2018-08, Vol.103 (2), p.171-187 [Peer Reviewed Journal]

2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.06.009 ;PMID: 30032986

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15
Prediction of the sequence-specific cleavage activity of Cas9 variants
Prediction of the sequence-specific cleavage activity of Cas9 variants
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Prediction of the sequence-specific cleavage activity of Cas9 variants

Nature biotechnology, 2020-11, Vol.38 (11), p.1328-1336 [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/s41587-020-0537-9 ;PMID: 32514125

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16
Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)
Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)
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Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)

Journal of investigative dermatology, 2012-10, Vol.132 (10), p.2459-2461 [Peer Reviewed Journal]

2012 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2012.162 ;PMID: 22622421 ;CODEN: JIDEAE

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17
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

American journal of human genetics, 2016-09, Vol.99 (3), p.595-606 [Peer Reviewed Journal]

2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 1, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.07.005 ;PMID: 27569544

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18
Local Determinants of the Mutational Landscape of the Human Genome
Local Determinants of the Mutational Landscape of the Human Genome
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Local Determinants of the Mutational Landscape of the Human Genome

Cell, 2019-03, Vol.177 (1), p.101-114 [Peer Reviewed Journal]

2019 Elsevier Inc. ;Copyright © 2019 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.02.051 ;PMID: 30901533

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19
Precise estimates of mutation rate and spectrum in yeast
Precise estimates of mutation rate and spectrum in yeast
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Precise estimates of mutation rate and spectrum in yeast

Proceedings of the National Academy of Sciences - PNAS, 2014-06, Vol.111 (22), p.E2310-E2318 [Peer Reviewed Journal]

Copyright National Academy of Sciences Jun 3, 2014 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1323011111 ;PMID: 24847077

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20
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
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A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Genetics in medicine, 2020-02, Vol.22 (2), p.407-415 [Peer Reviewed Journal]

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) 2019. This work is published under https://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) 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0633-8 ;PMID: 31406321

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