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1
Questions on 'Sequencing of the MHC region defines HLA-DQA 1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al
Questions on 'Sequencing of the MHC region defines HLA-DQA 1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al
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Questions on 'Sequencing of the MHC region defines HLA-DQA 1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al

Annals of the rheumatic diseases, 2022-03, Vol.81 (3), p.e38-e38 [Peer Reviewed Journal]

ISSN: 0003-4967 ;EISSN: 1468-2060 ;DOI: 10.1136/annrheumdis-2020-217031 ;PMID: 32024650

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2
Response to: 'Questions on 'Sequencing of the MHC region defines HLA-DQA 1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al ' by Regueiro and Gonzalez
Response to: 'Questions on 'Sequencing of the MHC region defines HLA-DQA 1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al ' by Regueiro and Gonzalez
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Response to: 'Questions on 'Sequencing of the MHC region defines HLA-DQA 1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al ' by Regueiro and Gonzalez

Annals of the rheumatic diseases, 2022-03, Vol.81 (3), p.e39-e39 [Peer Reviewed Journal]

ISSN: 0003-4967 ;EISSN: 1468-2060 ;DOI: 10.1136/annrheumdis-2020-217064 ;PMID: 32371386

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3
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
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Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population

Journal of medical genetics, 2021-08, Vol.58 (8), p.565-569 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-106970 ;PMID: 32467295

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4
Molecular Features and Functional Implications of Germline Variants in Triple-Negative Breast Cancer
Molecular Features and Functional Implications of Germline Variants in Triple-Negative Breast Cancer
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Molecular Features and Functional Implications of Germline Variants in Triple-Negative Breast Cancer

JNCI : Journal of the National Cancer Institute, 2021-07, Vol.113 (7), p.884-892 [Peer Reviewed Journal]

The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com. ;The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djaa175 ;PMID: 33151324

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5
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Thorax, 2018-02, Vol.73 (2), p.157-166 [Peer Reviewed Journal]

Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;Copyright: 2018 © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0040-6376 ;EISSN: 1468-3296 ;DOI: 10.1136/thoraxjnl-2017-209999 ;PMID: 28790179

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6
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations
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Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations

Journal of medical genetics, 2021-11, Vol.58 (11), p.752-759 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107299 ;PMID: 32963034

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7
Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients
Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients
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Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients

Blood, 2014-10, Vol.124 (16), p.2544-2553 [Peer Reviewed Journal]

2014 American Society of Hematology ;2014 by The American Society of Hematology. ;2014 by The American Society of Hematology 2014 ;ISSN: 0006-4971 ;ISSN: 1528-0020 ;EISSN: 1528-0020 ;DOI: 10.1182/blood-2013-12-546309 ;PMID: 25171927

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8
Genetic Origins and Sex-Biased Admixture of the Huis
Genetic Origins and Sex-Biased Admixture of the Huis
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Genetic Origins and Sex-Biased Admixture of the Huis

Molecular biology and evolution, 2021-09, Vol.38 (9), p.3804-3819 [Peer Reviewed Journal]

The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. 2021 ;The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. ;COPYRIGHT 2021 Oxford University Press ;ISSN: 1537-1719 ;ISSN: 0737-4038 ;EISSN: 1537-1719 ;DOI: 10.1093/molbev/msab158 ;PMID: 34021754

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9
Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People
Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People
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Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People

Molecular biology and evolution, 2021-10, Vol.38 (10), p.4149-4165 [Peer Reviewed Journal]

The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. 2020 ;The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. ;COPYRIGHT 2021 Oxford University Press ;ISSN: 1537-1719 ;ISSN: 0737-4038 ;EISSN: 1537-1719 ;DOI: 10.1093/molbev/msaa276 ;PMID: 33170928

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10
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
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NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation

Journal of medical genetics, 2022-01, Vol.59 (1), p.1-9 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-107883 ;PMID: 34675123

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11
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes
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Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes

Human molecular genetics, 2021-05, Vol.30 (8), p.716-726 [Peer Reviewed Journal]

The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2021 ;The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddab044 ;PMID: 33607655

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12
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy
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Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy

Investigative ophthalmology & visual science, 2021-12, Vol.62 (15), p.4-4 [Peer Reviewed Journal]

Copyright 2021 The Authors 2021 ;ISSN: 1552-5783 ;ISSN: 0146-0404 ;EISSN: 1552-5783 ;DOI: 10.1167/iovs.62.15.4 ;PMID: 34860240

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13
Genetic Admixture in the Culturally Unique Peranakan Chinese Population in Southeast Asia
Genetic Admixture in the Culturally Unique Peranakan Chinese Population in Southeast Asia
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Genetic Admixture in the Culturally Unique Peranakan Chinese Population in Southeast Asia

Molecular biology and evolution, 2021-10, Vol.38 (10), p.4463-4474 [Peer Reviewed Journal]

The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. 2021 ;The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. ;COPYRIGHT 2021 Oxford University Press ;ISSN: 1537-1719 ;ISSN: 0737-4038 ;EISSN: 1537-1719 ;DOI: 10.1093/molbev/msab187 ;PMID: 34152401

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14
Babies of South Asian and European Ancestry Show Similar Associations With Genetic Risk Score for Birth Weight Despite the Smaller Size of South Asian Newborns
Babies of South Asian and European Ancestry Show Similar Associations With Genetic Risk Score for Birth Weight Despite the Smaller Size of South Asian Newborns
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Babies of South Asian and European Ancestry Show Similar Associations With Genetic Risk Score for Birth Weight Despite the Smaller Size of South Asian Newborns

Diabetes (New York, N.Y.), 2022-04, Vol.71 (4), p.821-836 [Peer Reviewed Journal]

2022 by the American Diabetes Association. ;Copyright American Diabetes Association Apr 2022 ;ISSN: 0012-1797 ;EISSN: 1939-327X ;DOI: 10.2337/db21-0479 ;PMID: 35061033

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15
Genome-wide identification of cis DNA methylation quantitative trait loci in three Southeast Asian Populations
Genome-wide identification of cis DNA methylation quantitative trait loci in three Southeast Asian Populations
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Genome-wide identification of cis DNA methylation quantitative trait loci in three Southeast Asian Populations

Human molecular genetics, 2021-05, Vol.30 (7), p.603-618 [Peer Reviewed Journal]

The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2021 ;The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddab038 ;PMID: 33547791

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16
Dysfunction of VIPR2 leads to myopia in humans and mice
Dysfunction of VIPR2 leads to myopia in humans and mice
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Dysfunction of VIPR2 leads to myopia in humans and mice

Journal of medical genetics, 2022-01, Vol.59 (1), p.88-100 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107220 ;PMID: 33318135

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17
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
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Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Journal of medical genetics, 2021-11, Vol.58 (11), p.729-736 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107159 ;PMID: 32994280

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18
Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease
Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease
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Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease

Stroke (1970), 2021-12, Vol.52 (12), p.3918-3925 [Peer Reviewed Journal]

ISSN: 0039-2499 ;EISSN: 1524-4628 ;DOI: 10.1161/STROKEAHA.120.032265 ;PMID: 34404235

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19
Sequencing of the MHC region defines HLA-DQA1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population
Sequencing of the MHC region defines HLA-DQA1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population
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Sequencing of the MHC region defines HLA-DQA1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population

Annals of the rheumatic diseases, 2019-06, Vol.78 (6), p.773-780 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0003-4967 ;ISSN: 1468-2060 ;EISSN: 1468-2060 ;DOI: 10.1136/annrheumdis-2018-214725 ;PMID: 30936065

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20
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
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Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma

Journal of medical genetics, 2022-01, Vol.59 (1), p.56-64 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107102 ;PMID: 33219105

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