Publications:

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs231356

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs231356

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: rs231356

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

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Relationship Between KCNQ1 Polymorphism and Type 2 Diabetes Risk in Northwestern China.

Pharmacogenomics And Personalized Medicine

Xu, Jing J; Zhang, Wei W; Song, Wei W; Cui, Jiaqi J; Tian, Yanni Y; Chen, Huan H; Huang, Pan P; Yang, Shujun S; Wang, Lu L; He, Xin X; Wang, Lin L; Shi, Bingyin B; Cui, Wei W

Publication Date: 2021

Variant appearance in text: rs231356

PubMed Link: 35002291

Variant Present in the following documents:

• Main text
• pgpm-14-1731.pdf

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Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study.

Annals Of Translational Medicine

Yang, Zhenyu Z; Yuan, Lijuan L; Yang, Lin L; Peng, Shujia S; Yang, Ping P; He, Xianli X; Bao, Guoqiang G

Publication Date: 2021-01

Variant appearance in text: rs231356

PubMed Link: 33569458

Variant Present in the following documents:

• Main text
• atm-09-02-156.pdf

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Genetic Susceptibility to Gestational Diabetes Mellitus in a Chinese Population.

Frontiers In Endocrinology

Cao, Minkai M; Zhang, Le L; Chen, Ting T; Shi, Aiwu A; Xie, Kaipeng K; Li, Zhengying Z; Xu, Jianjuan J; Chen, Zhong Z; Ji, Chenbo C; Wen, Juan J

Publication Date: 2020

Variant appearance in text: rs231356

PubMed Link: 32390949

Variant Present in the following documents:

• Main text
• fendo-11-00247.pdf

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: KCNQ1: 1514+22032A>T; rs231356

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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Pleiotropic Effects of a KCNQ1 Variant on Lipid Profiles and Type 2 Diabetes: A Family-Based Study in China.

Journal Of Diabetes Research

Wang, Xiaowen X; Wu, Junhui J; Wu, Yao Y; Wang, Mengying M; Wang, Zijing Z; Wu, Tao T; Chen, Dafang D; Tang, Xun X; Qin, Xueying X; Wu, Yiqun Y; Hu, Yonghua Y

Publication Date: 2020

Variant appearance in text: rs231356

PubMed Link: 32016123

Variant Present in the following documents:

• Main text

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Genetic factors and risk of type 2 diabetes among women with a history of gestational diabetes: findings from two independent populations.

Bmj Open Diabetes Research & Care

Li, Mengying M; Rahman, Mohammad L ML; Wu, Jing J; Ding, Ming M; Chavarro, Jorge E JE; Lin, Yuan Y; Ley, Sylvia H SH; Bao, Wei W; Grunnet, Louise G LG; Hinkle, Stefanie N SN; Thuesen, Anne Cathrine B ACB; Yeung, Edwina E; Gore-Langton, Robert E RE; Sherman, Seth S; Hjort, Line L; Kampmann, Freja Bach FB; Bjerregaard, Anne Ahrendt AA; Damm, Peter P; Tekola-Ayele, Fasil F; Liu, Aiyi A; Mills, James L JL; Vaag, Allan A; Olsen, Sjurdur F SF; Hu, Frank B FB; Zhang, Cuilin C

Publication Date: 2020-01

Variant appearance in text: rs231356

PubMed Link: 31958311

Variant Present in the following documents:

• Main text
• bmjdrc-2019-000850.pdf
• bmjdrc-2019-000850supp001.pdf

View BVdb publication page

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Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, Proteomics & Bioinformatics

Du, Zhenglin Z; Ma, Liang L; Qu, Hongzhu H; Chen, Wei W; Zhang, Bing B; Lu, Xi X; Zhai, Weibo W; Sheng, Xin X; Sun, Yongqiao Y; Li, Wenjie W; Lei, Meng M; Qi, Qiuhui Q; Yuan, Na N; Shi, Shuo S; Zeng, Jingyao J; Wang, Jinyue J; Yang, Yadong Y; Liu, Qi Q; Hong, Yaqiang Y; Dong, Lili L; Zhang, Zhewen Z; Zou, Dong D; Wang, Yanqing Y; Song, Shuhui S; Liu, Fan F; Fang, Xiangdong X; Chen, Hua H; Liu, Xin X; Xiao, Jingfa J; Zeng, Changqing C

Publication Date: 2019-06

Variant appearance in text: rs231356

PubMed Link: 31494266

Variant Present in the following documents:

• Main text
• main.pdf

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Parent of origin genetic effects on methylation in humans are common and influence complex trait variation.

Nature Communications

Zeng, Yanni Y; Amador, Carmen C; Xia, Charley C; Marioni, Riccardo R; Sproul, Duncan D; Walker, Rosie M RM; Morris, Stewart W SW; Bretherick, Andrew A; Canela-Xandri, Oriol O; Boutin, Thibaud S TS; Clark, David W DW; Campbell, Archie A; Rawlik, Konrad K; Hayward, Caroline C; Nagy, Reka R; Tenesa, Albert A; Porteous, David J DJ; Wilson, James F JF; Deary, Ian J IJ; Evans, Kathryn L KL; McIntosh, Andrew M AM; Navarro, Pau P; Haley, Chris S CS

Publication Date: 2019-03-27

Variant appearance in text: rs231356

PubMed Link: 30918249

Variant Present in the following documents:

• Main text

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Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk.

Scientific Reports

Christodoulou, Maria-Ioanna MI; Avgeris, Margaritis M; Kokkinopoulou, Ioanna I; Maratou, Eirini E; Mitrou, Panayota P; Kontos, Christos K CK; Pappas, Efthimios E; Boutati, Eleni E; Scorilas, Andreas A; Fragoulis, Emmanuel G EG

Publication Date: 2019-02-06

Variant appearance in text: rs231356

PubMed Link: 30728419

Variant Present in the following documents:

• Main text
• 41598_2018_Article_37856.pdf

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs231356

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans.

Human Molecular Genetics

Cuellar Partida, Gabriel G; Laurin, Charles C; Ring, Susan M SM; Gaunt, Tom R TR; McRae, Allan F AF; Visscher, Peter M PM; Montgomery, Grant W GW; Martin, Nicholas G NG; Hemani, Gibran G; Suderman, Matthew M; Relton, Caroline L CL; Davey Smith, George G; Evans, David M DM

Publication Date: 2018-08-15

Variant appearance in text: rs231356

PubMed Link: 29860447

Variant Present in the following documents:

• Main text
• ddy206.pdf

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs231356

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of Chocó and Antioquia.

Scientific Reports

Chande, Aroon T AT; Rowell, Jessica J; Rishishwar, Lavanya L; Conley, Andrew B AB; Norris, Emily T ET; Valderrama-Aguirre, Augusto A; Medina-Rivas, Miguel A MA; Jordan, I King IK

Publication Date: 2017-12-07

Variant appearance in text: rs231356

PubMed Link: 29215035

Variant Present in the following documents:

• 41598_2017_17380_MOESM1_ESM.pdf

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Tobacco smoking is associated with DNA methylation of diabetes susceptibility genes.

Diabetologia

Ligthart, Symen S; Steenaard, Rebecca V RV; Peters, Marjolein J MJ; van Meurs, Joyce B J JB; Sijbrands, Eric J G EJ; Uitterlinden, André G AG; Bonder, Marc J MJ; , ; Hofman, Albert A; Franco, Oscar H OH; Dehghan, Abbas A

Publication Date: 2016-05

Variant appearance in text: rs231356

PubMed Link: 26825526

Variant Present in the following documents:

• Main text
• 125_2016_Article_3872.pdf

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Genetics of Type 2 Diabetes in African Americans.

Current Diabetes Reports

Ng, Maggie C Y MC

Publication Date: 2015-10

Variant appearance in text: rs231356

PubMed Link: 26285759

Variant Present in the following documents:

• Main text
• 11892_2015_Article_651.pdf

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Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

Plos Genetics

Ng, Maggie C Y MC; Shriner, Daniel D; Chen, Brian H BH; Li, Jiang J; Chen, Wei-Min WM; Guo, Xiuqing X; Liu, Jiankang J; Bielinski, Suzette J SJ; Yanek, Lisa R LR; Nalls, Michael A MA; Comeau, Mary E ME; Rasmussen-Torvik, Laura J LJ; Jensen, Richard A RA; Evans, Daniel S DS; Sun, Yan V YV; An, Ping P; Patel, Sanjay R SR; Lu, Yingchang Y; Long, Jirong J; Armstrong, Loren L LL; Wagenknecht, Lynne L; Yang, Lingyao L; Snively, Beverly M BM; Palmer, Nicholette D ND; Mudgal, Poorva P; Langefeld, Carl D CD; Keene, Keith L KL; Freedman, Barry I BI; Mychaleckyj, Josyf C JC; Nayak, Uma U; Raffel, Leslie J LJ; Goodarzi, Mark O MO; Chen, Y-D Ida YD; Taylor, Herman A HA; Correa, Adolfo A; Sims, Mario M; Couper, David D; Pankow, James S JS; Boerwinkle, Eric E; Adeyemo, Adebowale A; Doumatey, Ayo A; Chen, Guanjie G; Mathias, Rasika A RA; Vaidya, Dhananjay D; Singleton, Andrew B AB; Zonderman, Alan B AB; Igo, Robert P RP; Sedor, John R JR; , ; Kabagambe, Edmond K EK; Siscovick, David S DS; McKnight, Barbara B; Rice, Kenneth K; Liu, Yongmei Y; Hsueh, Wen-Chi WC; Zhao, Wei W; Bielak, Lawrence F LF; Kraja, Aldi A; Province, Michael A MA; Bottinger, Erwin P EP; Gottesman, Omri O; Cai, Qiuyin Q; Zheng, Wei W; Blot, William J WJ; Lowe, William L WL; Pacheco, Jennifer A JA; Crawford, Dana C DC; , ; , ; Grundberg, Elin E; , ; Rich, Stephen S SS; Hayes, M Geoffrey MG; Shu, Xiao-Ou XO; Loos, Ruth J F RJ; Borecki, Ingrid B IB; Peyser, Patricia A PA; Cummings, Steven R SR; Psaty, Bruce M BM; Fornage, Myriam M; Iyengar, Sudha K SK; Evans, Michele K MK; Becker, Diane M DM; Kao, W H Linda WH; Wilson, James G JG; Rotter, Jerome I JI; Sale, Michèle M MM; Liu, Simin S; Rotimi, Charles N CN; Bowden, Donald W DW; ,

Publication Date: 2014-08

Variant appearance in text: rs231356

PubMed Link: 25102180

Variant Present in the following documents:

• Main text
• pgen.1004517.pdf

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