Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ZSCAN25: E388E; rs1859690

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ZSCAN25: E388E

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: ZSCAN25: E388E

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genomewide association study identifies a novel variant associated with tacrolimus trough concentration in Chinese renal transplant recipients.

Clinical And Translational Science

Yang, Siyao S; Jiang, Haixia H; Li, Chengcheng C; Lu, Huijie H; Li, Chuanjiang C; Ye, Demei D; Qi, Huana H; Xu, Wenbin W; Bao, Xiaojie X; Maseko, Nicola N; Zhang, Siqi S; Shao, Ruifan R; Li, Liang L

Publication Date: 2022-11

Variant appearance in text: rs1859690

PubMed Link: 35977080

Variant Present in the following documents:

• Main text
• CTS-15-2640.pdf

View BVdb publication page

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An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Npj Genomic Medicine

Wang, Zhigang Z; Xu, Hongen H; Xiang, Tianchao T; Liu, Danhua D; Xu, Fei F; Zhao, Lixiang L; Feng, Yonghua Y; Xu, Linan L; Liu, Jialu J; Fang, Ye Y; Liu, Huanfei H; Li, Ruijun R; Hu, Xinxin X; Guan, Jingyuan J; Liu, Longshan L; Feng, Guiwen G; Shen, Qian Q; Xu, Hong H; Frishman, Dmitrij D; Tang, Wenxue W; Guo, Jiancheng J; Rao, Jia J; Shang, Wenjun W

Publication Date: 2021-07-02

Variant appearance in text: rs1859690

PubMed Link: 34215756

Variant Present in the following documents:

• 41525_2021_219_MOESM1_ESM.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ZSCAN25: 1164A>G; E388E; rs1859690

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ZSCAN25: E388E; rs1859690

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study.

Pharmacogenomics And Personalized Medicine

Al-Eitan, Laith N LN; Al-Dalalah, Islam M IM; Mustafa, Mohamed M MM; Alghamdi, Mansour A MA; Elshammari, Afrah K AK; Khreisat, Wael H WH; Al-Quasmi, Mohammed N MN; Aljamal, Hanan A HA

Publication Date: 2019

Variant appearance in text: rs1859690

PubMed Link: 31564953

Variant Present in the following documents:

• Main text
• pgpm-12-225.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: ZNF498: 1164A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing for the identification of CYP3A7 variants associated with tacrolimus concentrations in kidney transplant patients.

Scientific Reports

Sohn, Minji M; Kim, Myeong Gyu MG; Han, Nayoung N; Kim, In-Wha IW; Gim, Jungsoo J; Min, Sang-Il SI; Song, Eun Young EY; Kim, Yon Su YS; Jung, Hun Soon HS; Shin, Young Kee YK; Ha, Jongwon J; Oh, Jung Mi JM

Publication Date: 2018-12-24

Variant appearance in text: rs1859690

PubMed Link: 30584253

Variant Present in the following documents:

• Main text
• 41598_2018_Article_36085.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1859690

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ZSCAN25: 1164A>G; rs1859690

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: ZSCAN25: E388E

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ZSCAN25: E388E; rs1859690

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: ZNF498: E388E; rs1859690

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Liver expression quantitative trait loci: a foundation for pharmacogenomic research.

Frontiers In Genetics

Glubb, Dylan M DM; Dholakia, Neepa N; Innocenti, Federico F

Publication Date: 2012

Variant appearance in text: rs1859690

PubMed Link: 22912647

Variant Present in the following documents:

• Main text
• fgene-03-00153.pdf

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Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver.

The Pharmacogenomics Journal

Schröder, A A; Klein, K K; Winter, S S; Schwab, M M; Bonin, M M; Zell, A A; Zanger, U M UM

Publication Date: 2013-02

Variant appearance in text: rs1859690

PubMed Link: 22006096

Variant Present in the following documents:

• Main text
• tpj201144a.pdf

View BVdb publication page

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