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: rs3789068

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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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs3789068

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_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: BCL2L11: 498+1523A>G; rs3789068

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: BCL2L11: 498+1523A>G; rs3789068

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3789068

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs3789068

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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Familial predisposition and genetic risk factors for lymphoma.

Blood

Cerhan, James R JR; Slager, Susan L SL

Publication Date: 2015-11-12

Variant appearance in text: rs3789068

PubMed Link: 26405224

Variant Present in the following documents:

• Main text

View BVdb publication page

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PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium.

Blood

Nieters, Alexandra A; Conde, Lucia L; Slager, Susan L SL; Brooks-Wilson, Angela A; Morton, Lindsay L; Skibola, Danica R DR; Novak, Anne J AJ; Riby, Jacques J; Ansell, Stephen M SM; Halperin, Eran E; Shanafelt, Tait D TD; Agana, Luz L; Wang, Alice H AH; De Roos, Anneclaire J AJ; Severson, Richard K RK; Cozen, Wendy W; Spinelli, John J; Butterbach, Katja K; Becker, Nikolaus N; de Sanjose, Silvia S; Benavente, Yolanda Y; Cocco, Pierluigi P; Staines, Anthony A; Maynadié, Marc M; Foretova, Lenka L; Boffetta, Paolo P; Brennan, Paul P; Lan, Qing Q; Zhang, Yawei Y; Zheng, Tongzhang T; Purdue, Mark M; Armstrong, Bruce B; Kricker, Anne A; Vajdic, Claire M CM; Grulich, Andrew A; Smith, Martyn T MT; Bracci, Paige M PM; Chanock, Stephen J SJ; Hartge, Patricia P; Cerhan, James R JR; Wang, Sophia S SS; Rothman, Nathaniel N; Skibola, Christine F CF

Publication Date: 2012-11-29

Variant appearance in text: rs3789068

PubMed Link: 23047821

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetics in follicular lymphoma.

Best Practice & Research. Clinical Haematology

Cerhan, James R JR

Publication Date: 2011-06

Variant appearance in text: rs3789068

PubMed Link: 21658613

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.

Plos Genetics

Zhai, Guangju G; Teumer, Alexander A; Stolk, Lisette L; Perry, John R B JR; Vandenput, Liesbeth L; Coviello, Andrea D AD; Koster, Annemarie A; Bell, Jordana T JT; Bhasin, Shalender S; Eriksson, Joel J; Eriksson, Anna A; Ernst, Florian F; Ferrucci, Luigi L; Frayling, Timothy M TM; Glass, Daniel D; Grundberg, Elin E; Haring, Robin R; Hedman, Asa K AK; Hofman, Albert A; Kiel, Douglas P DP; Kroemer, Heyo K HK; Liu, Yongmei Y; Lunetta, Kathryn L KL; Maggio, Marcello M; Lorentzon, Mattias M; Mangino, Massimo M; Melzer, David D; Miljkovic, Iva I; , ; Nica, Alexandra A; Penninx, Brenda W J H BW; Vasan, Ramachandran S RS; Rivadeneira, Fernando F; Small, Kerrin S KS; Soranzo, Nicole N; Uitterlinden, André G AG; Völzke, Henry H; Wilson, Scott G SG; Xi, Li L; Zhuang, Wei Vivian WV; Harris, Tamara B TB; Murabito, Joanne M JM; Ohlsson, Claes C; Murray, Anna A; de Jong, Frank H FH; Spector, Tim D TD; Wallaschofski, Henri H

Publication Date: 2011-04

Variant appearance in text: rs3789068

PubMed Link: 21533175

Variant Present in the following documents:

• Main text
• pgen.1002025.pdf

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Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Kelly, Jennifer L JL; Novak, Anne J AJ; Fredericksen, Zachary S ZS; Liebow, Mark M; Ansell, Stephen M SM; Dogan, Ahmet A; Wang, Alice H AH; Witzig, Thomas E TE; Call, Timothy G TG; Kay, Neil E NE; Habermann, Thomas M TM; Slager, Susan L SL; Cerhan, James R JR

Publication Date: 2010-11

Variant appearance in text: rs3789068

PubMed Link: 20855536

Variant Present in the following documents:

• Main text

View BVdb publication page

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