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: rs11506105

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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Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.

European Journal Of Pediatrics

Luo, Xi X; Zhao, Min M; Chen, Cheng C; Lin, Fengji F; Li, Xiaodong X; Huang, Haiyun H; Dou, Lei L; Feng, Jinxing J; Xiao, Shanqiu S; Liu, Dong D; He, Junli J; Yu, Jialin J

Publication Date: 2023-02-09

Variant appearance in text: rs11506105

PubMed Link: 36757497

Variant Present in the following documents:

• Main text
• 431_2022_Article_4779.pdf

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: rs11506105

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: EGFR: 629-62A>G; rs11506105

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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Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population.

Scientific Reports

Baek, In Ki IK; Cheong, Hyun Sub HS; Namgoong, Seok S; Kim, Jeong-Hyun JH; Kang, Seok-Gu SG; Yoon, Seon-Jin SJ; Kim, Se Hoon SH; Chang, Jong Hee JH; Kim, Lyoung Hyo LH; Shin, Hyoung Doo HD

Publication Date: 2022-11-08

Variant appearance in text: rs11506105

PubMed Link: 36347915

Variant Present in the following documents:

• Main text
• 41598_2022_Article_23217.pdf

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: rs11506105

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: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: EGFR: 629-62A>G; rs11506105

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: EGFR: 629-62A>G; rs11506105

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs11506105

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

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: EGFR: 629-62A>G; rs11506105

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs11506105

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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The Impact of EGFR Gene Polymorphisms on the Risk of Alzheimer's Disease in a Chinese Han Population: A Case-Controlled Study.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Chen, Xiuhong X; Wang, Changhai C; Zhou, Shuangbao S; Li, Xueyong X; Wu, Lan L

Publication Date: 2018-07-20

Variant appearance in text: rs11506105

PubMed Link: 30026459

Variant Present in the following documents:

• Main text
• medscimonit-24-5035.pdf

View BVdb publication page

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: EGFR: 629-62A>G; rs11506105

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page

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Associations between EGFR gene polymorphisms and susceptibility to glioma: a systematic review and meta-analysis from GWAS and case-control studies.

Oncotarget

Yu, Xiao X; Sun, Nian Rong NR; Jang, Hai Tao HT; Guo, Shi Wen SW; Lian, Min Xue MX

Publication Date: 2017-10-17

Variant appearance in text: rs11506105

PubMed Link: 29156842

Variant Present in the following documents:

• Main text
• oncotarget-08-86877.pdf

View BVdb publication page

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A case-control study of the association between the EGFR gene and glioma risk in a Chinese Han population.

Oncotarget

Yan, Mengdan M; Li, Jingjie J; He, Na N; Shi, Xugang X; Du, Shuli S; Li, Bin B; Jin, Tianbo T

Publication Date: 2017-08-29

Variant appearance in text: rs11506105

PubMed Link: 28938685

Variant Present in the following documents:

• Main text
• oncotarget-08-59823.pdf

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: rs11506105

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

British Journal Of Cancer

de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD

Publication Date: 2017-06-06

Variant appearance in text: EGFR: 629-62A>G; rs11506105

PubMed Link: 28524158

Variant Present in the following documents:

• bjc2017147x1.pdf

View BVdb publication page

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Common genetic variations in cell cycle and DNA repair pathways associated with pediatric brain tumor susceptibility.

Oncotarget

Adel Fahmideh, Maral M; Lavebratt, Catharina C; Schüz, Joachim J; Röösli, Martin M; Tynes, Tore T; Grotzer, Michael A MA; Johansen, Christoffer C; Kuehni, Claudia E CE; Lannering, Birgitta B; Prochazka, Michaela M; Schmidt, Lisbeth S LS; Feychting, Maria M

Publication Date: 2016-09-27

Variant appearance in text: rs11506105

PubMed Link: 27613841

Variant Present in the following documents:

• Main text
• oncotarget-07-63640.pdf

View BVdb publication page

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Effect of epidermal growth factor receptor gene polymorphisms on prognosis in glioma patients.

Oncotarget

Li, Bin B; Zhao, Wenhui W; Li, Jingjie J; Yan, Mengdan M; Xie, Zhilan Z; Zhu, Yuanyuan Y; Chen, Chao C; Jin, Tianbo T

Publication Date: 2016-09-27

Variant appearance in text: rs11506105

PubMed Link: 27437777

Variant Present in the following documents:

• Main text
• oncotarget-07-63054.pdf

View BVdb publication page

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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: rs11506105

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology

Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H

Publication Date: 2015-07

Variant appearance in text: rs11506105

PubMed Link: 25789707

Variant Present in the following documents:

• NIHMS670893-supplement-01.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs11506105

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: rs11506105

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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Genetic variation in the EGFR gene and the risk of glioma in a Chinese Han population.

Plos One

Hou, Wu-Gang WG; Ai, Wen-Bo WB; Bai, Xiao-Guang XG; Dong, Hai-Long HL; Li, Zhen Z; Zhang, Yuan-Qiang YQ; Xiong, Li-Ze LZ

Publication Date: 2012

Variant appearance in text: rs11506105

PubMed Link: 22662167

Variant Present in the following documents:

• Main text
• pone.0037531.pdf

View BVdb publication page

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