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: rs12232780

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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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs12232780

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: SMARCA4: 2617-321G>A; rs12232780

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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: rs12232780

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs12232780

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.

Faseb Bioadvances

Quilter, Claire R CR; Harvey, Kerry M KM; Bauer, Julien J; Skinner, Benjamin M BM; Gomez, Maria M; Shrivastava, Manu M; Doel, Andrew M AM; Drammeh, Saikou S; Dunger, David B DB; Moore, Sophie E SE; Ong, Ken K KK; Prentice, Andrew M AM; Bernstein, Robin M RM; Sargent, Carole A CA; Affara, Nabeel A NA

Publication Date: 2021-04

Variant appearance in text: rs12232780

PubMed Link: 33842847

Variant Present in the following documents:

• FBA2-3-205-s004.xlsx, sheet 3

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: SMARCA4: 2617-321G>A; rs12232780

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk.

Molecular Genetics & Genomic Medicine

Ma, Huijun H; He, Yongjun Y; Bai, Mei M; Zhu, Linhao L; He, Xue X; Wang, Li L; Jin, Tianbo T

Publication Date: 2019-11

Variant appearance in text: rs12232780

PubMed Link: 31507094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications

Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR

Publication Date: 2019-04-23

Variant appearance in text: rs12232780

PubMed Link: 31015401

Variant Present in the following documents:

• 41467_2019_9572_MOESM6_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: SMARCA4: 2617-321G>A; rs12232780

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Sex-specific association of SH2B3 and SMARCA4 polymorphisms with coronary artery disease susceptibility.

Oncotarget

Ji, Yuqiang Y; Song, Yanbin Y; Wang, Qingwen Q; Xu, Pengcheng P; Zhao, Zhao Z; Li, Xia X; Wang, Nan N; Jin, Tianbo T; Chen, Chao C

Publication Date: 2017-08-29

Variant appearance in text: rs12232780

PubMed Link: 28938645

Variant Present in the following documents:

• Main text
• oncotarget-08-59397.pdf

View BVdb publication page

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Variants in the SMARCA4 gene was associated with coronary heart disease susceptibility in Chinese han population.

Oncotarget

Guo, Xuan X; Wang, Xiaohong X; Wang, Yuan Y; Zhang, Chunyan C; Quan, Xiaohui X; Zhang, Yan Y; Jia, Shan S; Ma, Weidong W; Fan, Yajie Y; Wang, Congxia C

Publication Date: 2017-01-31

Variant appearance in text: rs12232780

PubMed Link: 28055962

Variant Present in the following documents:

• Main text
• oncotarget-08-7350.pdf

View BVdb publication page

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Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.

Plos One

Shao, Jiaofang J; Lou, Xiaoyan X; Wang, Jun J; Zhang, Jing J; Chen, Chen C; Hua, Dasong D; Mo, Fan F; Han, Xu X; Zheng, Shu S; Lin, Biaoyang B

Publication Date: 2013

Variant appearance in text: rs12232780

PubMed Link: 23940558

Variant Present in the following documents:

• pone.0070307.s002.xlsx, sheet 1

View BVdb publication page

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SWI/SNF gene variants and glioma risk and outcome.

Cancer Epidemiology

Amankwah, Ernest K EK; Thompson, Reid C RC; Nabors, L Burton LB; Olson, Jeffrey J JJ; Browning, James E JE; Madden, Melissa H MH; Egan, Kathleen M KM

Publication Date: 2013-04

Variant appearance in text: rs12232780

PubMed Link: 23276717

Variant Present in the following documents:

• Main text

View BVdb publication page

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