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1
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

American journal of human genetics, 2018-01, Vol.102 (1), p.142-155 [Peer Reviewed Journal]

2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.12.007 ;PMID: 29304372

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2
High-depth African genomes inform human migration and health
High-depth African genomes inform human migration and health
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High-depth African genomes inform human migration and health

Nature (London), 2020-10, Vol.586 (7831), p.741-748 [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/s41586-020-2859-7 ;PMID: 33116287

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3
HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition
HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition
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HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition

Molecular psychiatry, 2017-04, Vol.22 (4), p.527-536 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2017 ;Macmillan Publishers Limited, part of Springer Nature. 2016. ;ISSN: 1359-4184 ;EISSN: 1476-5578 ;DOI: 10.1038/mp.2016.120 ;PMID: 27528460

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4
HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials
HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials
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HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials

The Journal of pathology, 2016-03, Vol.238 (4), p.562-570 [Peer Reviewed Journal]

2015 The Authors. published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland. ;2015 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland. ;Copyright © 2016 Pathological Society of Great Britain and Ireland ;ISSN: 0022-3417 ;EISSN: 1096-9896 ;DOI: 10.1002/path.4679 ;PMID: 26690310

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5
Evaluation of biological variation of glycated hemoglobin and glycated albumin in healthy Chinese subjects
Evaluation of biological variation of glycated hemoglobin and glycated albumin in healthy Chinese subjects
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Evaluation of biological variation of glycated hemoglobin and glycated albumin in healthy Chinese subjects

Journal of clinical laboratory analysis, 2019-03, Vol.33 (3), p.e22715-n/a [Peer Reviewed Journal]

2018 Wiley Periodicals, Inc. ;2019. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0887-8013 ;EISSN: 1098-2825 ;DOI: 10.1002/jcla.22715 ;PMID: 30461058

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6
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Genome medicine, 2019-11, Vol.11 (1), p.68-68, Article 68 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;The Author(s). 2019 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-019-0675-1 ;PMID: 31694722

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7
Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors
Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors
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Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

Nature immunology, 2018-03, Vol.19 (3), p.302-314 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2018 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1529-2908 ;EISSN: 1529-2916 ;DOI: 10.1038/s41590-018-0049-7 ;PMID: 29476184

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8
Second trimester cervical length measurements with transvaginal ultrasound: A prospective observational agreement and reliability study
Second trimester cervical length measurements with transvaginal ultrasound: A prospective observational agreement and reliability study
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Second trimester cervical length measurements with transvaginal ultrasound: A prospective observational agreement and reliability study

Acta obstetricia et gynecologica Scandinavica, 2020-11, Vol.99 (11), p.1476-1485 [Peer Reviewed Journal]

2020 The Authors. published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG) ;2020 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG). ;2020. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0001-6349 ;ISSN: 1600-0412 ;EISSN: 1600-0412 ;DOI: 10.1111/aogs.13895 ;PMID: 32392356

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9
Common genetic variants influence human subcortical brain structures
Common genetic variants influence human subcortical brain structures
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Common genetic variants influence human subcortical brain structures

Nature (London), 2015-04, Vol.520 (7546), p.224-229 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group Apr 9, 2015 ;Distributed under a Creative Commons Attribution 4.0 International License ;2015 Macmillan Publishers Limited. All rights reserved 2015 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14101 ;PMID: 25607358 ;CODEN: NATUAS

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10
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
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De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

American journal of human genetics, 2021-04, Vol.108 (4), p.597-607 [Peer Reviewed Journal]

2021 The Authors ;Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. ;2021 The Authors 2021 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.02.012 ;PMID: 33675682

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11
Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication
Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication
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Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication

BMC genomics, 2013-07, Vol.14 (1), p.449-449 [Peer Reviewed Journal]

COPYRIGHT 2013 BioMed Central Ltd. ;COPYRIGHT 2013 BioMed Central Ltd. ;2013 Paudel et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2013 Paudel et al.; licensee BioMed Central Ltd. 2013 Paudel et al.; licensee BioMed Central Ltd. ;Wageningen University & Research ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/1471-2164-14-449 ;PMID: 23829399

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12
Maternal age generates phenotypic variation in Caenorhabditis elegans
Maternal age generates phenotypic variation in Caenorhabditis elegans
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Maternal age generates phenotypic variation in Caenorhabditis elegans

Nature (London), 2017-12, Vol.552 (7683), p.106-109 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Dec 7, 2017 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature25012 ;PMID: 29186117

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13
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Nature Medicine, 2020-12, Vol.26 (12), p.1912-1918 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1078-8956 ;EISSN: 1546-170X ;EISSN: 1744-7933 ;DOI: 10.1038/s41591-020-1103-1 ;PMID: 33169016

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14
The mutational constraint spectrum quantified from variation in 141,456 humans
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2020 ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2308-7 ;PMID: 32461654

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15
Exome sequencing and analysis of 454,787 UK Biobank participants
Exome sequencing and analysis of 454,787 UK Biobank participants
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Exome sequencing and analysis of 454,787 UK Biobank participants

Nature (London), 2021-11, Vol.599 (7886), p.628-634 [Peer Reviewed Journal]

2021. The Author(s). ;COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Nov 25, 2021 ;The Author(s) 2021 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-021-04103-z ;PMID: 34662886

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16
Morphological variation of major human populations based on nonmetric dental traits
Morphological variation of major human populations based on nonmetric dental traits
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Morphological variation of major human populations based on nonmetric dental traits

American journal of physical anthropology, 2008-06, Vol.136 (2), p.169-182 [Peer Reviewed Journal]

Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;Copyright 2008 Wiley-Liss, Inc. ;ISSN: 0002-9483 ;EISSN: 1096-8644 ;DOI: 10.1002/ajpa.20792 ;PMID: 18257017

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17
Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes
Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes
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Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes

Proceedings of the National Academy of Sciences - PNAS, 2015-02, Vol.112 (8), p.2485-2490 [Peer Reviewed Journal]

Volumes 1–89 and 106–112, copyright as a collective work only; author(s) retains copyright to individual articles ;Copyright National Academy of Sciences Feb 24, 2015 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1416878112 ;PMID: 25583482

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18
Human postprandial responses to food and potential for precision nutrition
Human postprandial responses to food and potential for precision nutrition
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Human postprandial responses to food and potential for precision nutrition

Nature medicine, 2020-06, Vol.26 (6), p.964-973 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/s41591-020-0934-0 ;PMID: 32528151

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19
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
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Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

Nature genetics, 2021-06, Vol.53 (6), p.779-786 [Peer Reviewed Journal]

COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2021 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-021-00865-4 ;PMID: 33972781

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20
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Rare variant contribution to human disease in 281,104 UK Biobank exomes
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Rare variant contribution to human disease in 281,104 UK Biobank exomes

Nature (London), 2021-09, Vol.597 (7877), p.527-532 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to Springer Nature Limited. ;COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Sep 23, 2021 ;The Author(s), under exclusive licence to Springer Nature Limited 2021 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-021-03855-y ;PMID: 34375979

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