Publications:

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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: rs7602534

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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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: rs7602534

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: EIF2B4: 76-7G>A; rs7602534

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs7602534

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2020-07-01

Variant appearance in text: rs7602534

PubMed Link: 32630231

Variant Present in the following documents:

• ijms-21-04702-s001.pdf

View BVdb publication page

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The IMAGEN study: a decade of imaging genetics in adolescents.

Molecular Psychiatry

Mascarell Maričić, Lea L; Walter, Henrik H; Rosenthal, Annika A; Ripke, Stephan S; Quinlan, Erin Burke EB; Banaschewski, Tobias T; Barker, Gareth J GJ; Bokde, Arun L W ALW; Bromberg, Uli U; Büchel, Christian C; Desrivières, Sylvane S; Flor, Herta H; Frouin, Vincent V; Garavan, Hugh H; Itterman, Bernd B; Martinot, Jean-Luc JL; Martinot, Marie-Laure Paillère MP; Nees, Frauke F; Orfanos, Dimitri Papadopoulos DP; Paus, Tomáš T; Poustka, Luise L; Hohmann, Sarah S; Smolka, Michael N MN; Fröhner, Juliane H JH; Whelan, Robert R; Kaminski, Jakob J; Schumann, Gunter G; Heinz, Andreas A; ,

Publication Date: 2020-11

Variant appearance in text: rs7602534

PubMed Link: 32601453

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: EIF2B4: 76-7G>A; rs7602534

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: EIF2B4: 76-7G>A; rs7602534

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.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: rs7602534

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs7602534

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.

Aging Cell

Teumer, Alexander A; Qi, Qibin Q; Nethander, Maria M; Aschard, Hugues H; Bandinelli, Stefania S; Beekman, Marian M; Berndt, Sonja I SI; Bidlingmaier, Martin M; Broer, Linda L; , ; Cappola, Anne A; Ceda, Gian Paolo GP; Chanock, Stephen S; Chen, Ming-Huei MH; Chen, Tai C TC; Chen, Yii-Der Ida YD; Chung, Jonathan J; Del Greco Miglianico, Fabiola F; Eriksson, Joel J; Ferrucci, Luigi L; Friedrich, Nele N; Gnewuch, Carsten C; Goodarzi, Mark O MO; Grarup, Niels N; Guo, Tingwei T; Hammer, Elke E; Hayes, Richard B RB; Hicks, Andrew A AA; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Hu, Frank F; Hunter, David J DJ; Husemoen, Lise L LL; Isaacs, Aaron A; Jacobs, Kevin B KB; Janssen, Joop A M J L JA; Jansson, John-Olov JO; Jehmlich, Nico N; Johnson, Simon S; Juul, Anders A; Karlsson, Magnus M; Kilpelainen, Tuomas O TO; Kovacs, Peter P; Kraft, Peter P; Li, Chao C; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; , ; Lorentzon, Mattias M; Lu, Yingchang Y; Maggio, Marcello M; Magi, Reedik R; Meigs, James J; Mellström, Dan D; Nauck, Matthias M; Newman, Anne B AB; Pollak, Michael N MN; Pramstaller, Peter P PP; Prokopenko, Inga I; Psaty, Bruce M BM; Reincke, Martin M; Rimm, Eric B EB; Rotter, Jerome I JI; Saint Pierre, Aude A; Schurmann, Claudia C; Seshadri, Sudha S; Sjögren, Klara K; Slagboom, P Eline PE; Strickler, Howard D HD; Stumvoll, Michael M; Suh, Yousin Y; Sun, Qi Q; Zhang, Cuilin C; Svensson, Johan J; Tanaka, Toshiko T; Tare, Archana A; Tönjes, Anke A; Uh, Hae-Won HW; van Duijn, Cornelia M CM; van Heemst, Diana D; Vandenput, Liesbeth L; Vasan, Ramachandran S RS; Völker, Uwe U; Willems, Sara M SM; Ohlsson, Claes C; Wallaschofski, Henri H; Kaplan, Robert C RC

Publication Date: 2016-10

Variant appearance in text: rs7602534

PubMed Link: 27329260

Variant Present in the following documents:

• ACEL-15-811-s001.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs7602534

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Association of Protein Phosphatase PPM1G With Alcohol Use Disorder and Brain Activity During Behavioral Control in a Genome-Wide Methylation Analysis.

The American Journal Of Psychiatry

Ruggeri, Barbara B; Nymberg, Charlotte C; Vuoksimaa, Eero E; Lourdusamy, Anbarasu A; Wong, Cybele P CP; Carvalho, Fabiana M FM; Jia, Tianye T; Cattrell, Anna A; Macare, Christine C; Banaschewski, Tobias T; Barker, Gareth J GJ; Bokde, Arun L W AL; Bromberg, Uli U; Büchel, Christian C; Conrod, Patricia J PJ; Fauth-Bühler, Mira M; Flor, Herta H; Frouin, Vincent V; Gallinat, Jürgen J; Garavan, Hugh H; Gowland, Penny P; Heinz, Andreas A; Ittermann, Bernd B; Martinot, Jean-Luc JL; Nees, Frauke F; Pausova, Zdenka Z; Paus, Tomáš T; Rietschel, Marcella M; Robbins, Trevor T; Smolka, Michael N MN; Spanagel, Rainer R; Bakalkin, Georgy G; Mill, Jonathan J; Sommer, Wolfgang H WH; Rose, Richard J RJ; Yan, Jia J; Aliev, Fazil F; Dick, Danielle D; Kaprio, Jaakko J; Desrivières, Sylvane S; Schumann, Gunter G; ,

Publication Date: 2015-06

Variant appearance in text: rs7602534

PubMed Link: 25982659

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.

Diabetes

Palmer, Nicholette D ND; Goodarzi, Mark O MO; Langefeld, Carl D CD; Wang, Nan N; Guo, Xiuqing X; Taylor, Kent D KD; Fingerlin, Tasha E TE; Norris, Jill M JM; Buchanan, Thomas A TA; Xiang, Anny H AH; Haritunians, Talin T; Ziegler, Julie T JT; Williams, Adrienne H AH; Stefanovski, Darko D; Cui, Jinrui J; Mackay, Adrienne W AW; Henkin, Leora F LF; Bergman, Richard N RN; Gao, Xiaoyi X; Gauderman, James J; Varma, Rohit R; Hanis, Craig L CL; Cox, Nancy J NJ; Highland, Heather M HM; Below, Jennifer E JE; Williams, Amy L AL; Burtt, Noel P NP; Aguilar-Salinas, Carlos A CA; Huerta-Chagoya, Alicia A; Gonzalez-Villalpando, Clicerio C; Orozco, Lorena L; Haiman, Christopher A CA; Tsai, Michael Y MY; Johnson, W Craig WC; Yao, Jie J; Rasmussen-Torvik, Laura L; Pankow, James J; Snively, Beverly B; Jackson, Rebecca D RD; Liu, Simin S; Nadler, Jerry L JL; Kandeel, Fouad F; Chen, Yii-Der I YD; Bowden, Donald W DW; Rich, Stephen S SS; Raffel, Leslie J LJ; Rotter, Jerome I JI; Watanabe, Richard M RM; Wagenknecht, Lynne E LE

Publication Date: 2015-05

Variant appearance in text: rs7602534

PubMed Link: 25524916

Variant Present in the following documents:

• supp_db14-0732_DB140732SupplementaryData.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs7602534

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A large-scale candidate gene association study of age at menarche and age at natural menopause.

Human Genetics

He, Chunyan C; Kraft, Peter P; Chasman, Daniel I DI; Buring, Julie E JE; Chen, Constance C; Hankinson, Susan E SE; Paré, Guillaume G; Chanock, Stephen S; Ridker, Paul M PM; Hunter, David J DJ

Publication Date: 2010-11

Variant appearance in text: rs7602534

PubMed Link: 20734064

Variant Present in the following documents:

• Main text

View BVdb publication page

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