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: rs231360

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs231360

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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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: rs231360

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.

Journal Of The National Cancer Institute

Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Timothy M TM; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ

Publication Date: 2022-05-09

Variant appearance in text: rs231360

PubMed Link: 35048991

Variant Present in the following documents:

• djac011_supplementary_data.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+8938C>T; rs231360

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.

Nature Communications

Adeyemo, Adebowale A AA; Zaghloul, Norann A NA; Chen, Guanjie G; Doumatey, Ayo P AP; Leitch, Carmen C CC; Hostelley, Timothy L TL; Nesmith, Jessica E JE; Zhou, Jie J; Bentley, Amy R AR; Shriner, Daniel D; Fasanmade, Olufemi O; Okafor, Godfrey G; Eghan, Benjamin B; Agyenim-Boateng, Kofi K; Chandrasekharappa, Settara S; Adeleye, Jokotade J; Balogun, William W; Owusu, Samuel S; Amoah, Albert A; Acheampong, Joseph J; Johnson, Thomas T; Oli, Johnnie J; Adebamowo, Clement C; , ; Collins, Francis F; Dunston, Georgia G; Rotimi, Charles N CN

Publication Date: 2019-07-19

Variant appearance in text: rs231360

PubMed Link: 31324766

Variant Present in the following documents:

• Main text
• 41467_2019_Article_10967.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: rs231360

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Causal Impact of Type 2 Diabetes Mellitus on Cerebral Small Vessel Disease: A Mendelian Randomization Analysis.

Stroke

Liu, Junfeng J; Rutten-Jacobs, Loes L; Liu, Ming M; Markus, Hugh S HS; Traylor, Matthew M

Publication Date: 2018-06

Variant appearance in text: rs231360

PubMed Link: 29686024

Variant Present in the following documents:

• str-49-1325-s001.pdf

View BVdb publication page

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