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: rs2075671

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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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: rs2075671

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs2075671

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2075671

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic associations of hemoglobin in children with chronic kidney disease in the PediGFR Consortium.

Pediatric Research

Atkinson, Meredith A MA; Xiao, Rui R; Köttgen, Anna A; Wühl, Elke E; Wong, Craig S CS; Wuttke, Matthias M; Bayazit, Aysun K AK; Çalişkan, Salim S; Warady, Bradley A BA; Schaefer, Franz F; Furth, Susan L SL

Publication Date: 2019-02

Variant appearance in text: rs2075671

PubMed Link: 30140068

Variant Present in the following documents:

• Main text
• nihms-1503134.pdf

View BVdb publication page

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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

Nature Genetics

,

Publication Date: 2016-08

Variant appearance in text: rs2075671

PubMed Link: 27399967

Variant Present in the following documents:

• NIHMS793138-supplement-1.pdf

View BVdb publication page

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GStream: improving SNP and CNV coverage on genome-wide association studies.

Plos One

Alonso, Arnald A; Marsal, Sara S; Tortosa, Raül R; Canela-Xandri, Oriol O; Julià, Antonio A

Publication Date: 2013

Variant appearance in text: rs2075671

PubMed Link: 23844243

Variant Present in the following documents:

• Main text
• pone.0068822.pdf

View BVdb publication page

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Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

Plos Genetics

Innocenti, Federico F; Cooper, Gregory M GM; Stanaway, Ian B IB; Gamazon, Eric R ER; Smith, Joshua D JD; Mirkov, Snezana S; Ramirez, Jacqueline J; Liu, Wanqing W; Lin, Yvonne S YS; Moloney, Cliona C; Aldred, Shelly Force SF; Trinklein, Nathan D ND; Schuetz, Erin E; Nickerson, Deborah A DA; Thummel, Ken E KE; Rieder, Mark J MJ; Rettie, Allan E AE; Ratain, Mark J MJ; Cox, Nancy J NJ; Brown, Christopher D CD

Publication Date: 2011-05

Variant appearance in text: rs2075671

PubMed Link: 21637794

Variant Present in the following documents:

• Main text
• pgen.1002078.pdf

View BVdb publication page

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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Nature Genetics

Ganesh, Santhi K SK; Zakai, Neil A NA; van Rooij, Frank J A FJ; Soranzo, Nicole N; Smith, Albert V AV; Nalls, Michael A MA; Chen, Ming-Huei MH; Kottgen, Anna A; Glazer, Nicole L NL; Dehghan, Abbas A; Kuhnel, Brigitte B; Aspelund, Thor T; Yang, Qiong Q; Tanaka, Toshiko T; Jaffe, Andrew A; Bis, Joshua C M JC; Verwoert, Germaine C GC; Teumer, Alexander A; Fox, Caroline S CS; Guralnik, Jack M JM; Ehret, Georg B GB; Rice, Kenneth K; Felix, Janine F JF; Rendon, Augusto A; Eiriksdottir, Gudny G; Levy, Daniel D; Patel, Kushang V KV; Boerwinkle, Eric E; Rotter, Jerome I JI; Hofman, Albert A; Sambrook, Jennifer G JG; Hernandez, Dena G DG; Zheng, Gang G; Bandinelli, Stefania S; Singleton, Andrew B AB; Coresh, Josef J; Lumley, Thomas T; Uitterlinden, André G AG; Vangils, Janine M JM; Launer, Lenore J LJ; Cupples, L Adrienne LA; Oostra, Ben A BA; Zwaginga, Jaap-Jan JJ; Ouwehand, Willem H WH; Thein, Swee-Lay SL; Meisinger, Christa C; Deloukas, Panos P; Nauck, Matthias M; Spector, Tim D TD; Gieger, Christian C; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Psaty, Bruce M BM; Ferrucci, Luigi L; Chakravarti, Aravinda A; Greinacher, Andreas A; O'Donnell, Christopher J CJ; Witteman, Jacqueline C M JC; Furth, Susan S; Cushman, Mary M; Harris, Tamara B TB; Lin, Jing-Ping JP

Publication Date: 2009-11

Variant appearance in text: rs2075671

PubMed Link: 19862010

Variant Present in the following documents:

• Main text
• nihms-145796.pdf
• NIHMS145796-supplement-1.pdf

View BVdb publication page

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