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: rs231353

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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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs231353

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs231353

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: rs231353

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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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+25708A>G; rs231353

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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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: rs231353

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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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: rs231353

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.

Human Molecular Genetics

Mägi, Reedik R; Horikoshi, Momoko M; Sofer, Tamar T; Mahajan, Anubha A; Kitajima, Hidetoshi H; Franceschini, Nora N; McCarthy, Mark I MI; , ; Morris, Andrew P AP

Publication Date: 2017-09-15

Variant appearance in text: rs231353

PubMed Link: 28911207

Variant Present in the following documents:

• Main text
• ddx280.pdf

View BVdb publication page

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Associations between a fetal imprinted gene allele score and late pregnancy maternal glucose concentrations.

Diabetes & Metabolism

Petry, C J CJ; Mooslehner, K K; Prentice, P P; Hayes, M G MG; Nodzenski, M M; Scholtens, D M DM; Hughes, I A IA; Acerini, C L CL; Ong, K K KK; Lowe, W L WL; Dunger, D B DB

Publication Date: 2017-09

Variant appearance in text: rs231353

PubMed Link: 28392167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.

Human Molecular Genetics

Horikoshi, Momoko M; Pasquali, Lorenzo L; Wiltshire, Steven S; Huyghe, Jeroen R JR; Mahajan, Anubha A; Asimit, Jennifer L JL; Ferreira, Teresa T; Locke, Adam E AE; Robertson, Neil R NR; Wang, Xu X; Sim, Xueling X; Fujita, Hayato H; Hara, Kazuo K; Young, Robin R; Zhang, Weihua W; Choi, Sungkyoung S; Chen, Han H; Kaur, Ismeet I; Takeuchi, Fumihiko F; Fontanillas, Pierre P; Thuillier, Dorothée D; Yengo, Loic L; Below, Jennifer E JE; Tam, Claudia H T CH; Wu, Ying Y; Abecasis, Gonçalo G; Altshuler, David D; Bell, Graeme I GI; Blangero, John J; Burtt, Noél P NP; Duggirala, Ravindranath R; Florez, Jose C JC; Hanis, Craig L CL; Seielstad, Mark M; Atzmon, Gil G; Chan, Juliana C N JC; Ma, Ronald C W RC; Froguel, Philippe P; Wilson, James G JG; Bharadwaj, Dwaipayan D; Dupuis, Josee J; Meigs, James B JB; Cho, Yoon Shin YS; Park, Taesung T; Kooner, Jaspal S JS; Chambers, John C JC; Saleheen, Danish D; Kadowaki, Takashi T; Tai, E Shyong ES; Mohlke, Karen L KL; Cox, Nancy J NJ; Ferrer, Jorge J; Zeggini, Eleftheria E; Kato, Norihiro N; Teo, Yik Ying YY; Boehnke, Michael M; McCarthy, Mark I MI; Morris, Andrew P AP; ,

Publication Date: 2016-05-15

Variant appearance in text: rs231353

PubMed Link: 26911676

Variant Present in the following documents:

• Main text
• ddw048.pdf

View BVdb publication page

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