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: rs1810132

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 proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: ERBB2: 575-61C>T; rs1810132

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

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: rs1810132

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs1810132

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: rs1810132

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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: ERBB2: 575-61C>T; rs1810132

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: ERBB2: 575-61C>T; rs1810132

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Influences in Breast Cancer Drug Resistance.

Breast Cancer (Dove Medical Press)

Daniyal, Adhitiya A; Santoso, Ivana I; Gunawan, Nadira Hasna Putri NHP; Barliana, Melisa Intan MI; Abdulah, Rizky R

Publication Date: 2021

Variant appearance in text: rs1810132

PubMed Link: 33603458

Variant Present in the following documents:

• Main text
• bctt-13-59.pdf

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1810132

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: rs1810132

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_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: rs1810132

PubMed Link: 30319441

Variant Present in the following documents:

• 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: rs1810132

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.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: rs1810132

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1810132

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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An exploratory study of host polymorphisms in genes that clinically characterize breast cancer tumors and pretreatment cognitive performance in breast cancer survivors.

Breast Cancer (Dove Medical Press)

Koleck, Theresa A TA; Bender, Catherine M CM; Clark, Beth Z BZ; Ryan, Christopher M CM; Ghotkar, Puja P; Brufsky, Adam A; McAuliffe, Priscilla F PF; Rastogi, Priya P; Sereika, Susan M SM; Conley, Yvette P YP

Publication Date: 2017

Variant appearance in text: rs1810132

PubMed Link: 28424560

Variant Present in the following documents:

• Main text
• bctt-9-095.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: rs1810132

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Single nucleotide polymorphisms of HER2 related to osteosarcoma susceptibility.

International Journal Of Clinical And Experimental Pathology

Xin, Da-Jiang DJ; Shen, Guo-Dong GD; Song, Jian J

Publication Date: 2015

Variant appearance in text: rs1810132

PubMed Link: 26464710

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of ERBB2 gene polymorphisms in leprosy susceptibility.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases

Rêgo, Jamile Leão JL; Oliveira, Joyce Moura JM; Santana, Nadja de Lima Nde L; Machado, Paulo Roberto Lima PR; Castellucci, Léa Cristina LC

Publication Date: 2015

Variant appearance in text: rs1810132

PubMed Link: 25636184

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A phase I trial of combination trastuzumab, lapatinib, and bevacizumab in patients with advanced cancer.

Investigational New Drugs

Falchook, Gerald S GS; Moulder, Stacy S; Naing, Aung A; Wheler, Jennifer J JJ; Hong, David S DS; Piha-Paul, Sarina A SA; Tsimberidou, Apostolia M AM; Fu, Siqing S; Zinner, Ralph R; Janku, Filip F; Jiang, Yunfang Y; Huang, Mei M; Parkhurst, Kristin L KL; Kurzrock, Razelle R

Publication Date: 2015-02

Variant appearance in text: rs1810132

PubMed Link: 25323060

Variant Present in the following documents:

• Main text

View BVdb publication page

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Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in Brazil.

Memorias Do Instituto Oswaldo Cruz

Araújo, Sérgio Ricardo Fernandes SR; Jamieson, Sarra Elisabeth SE; Dupnik, Kathryn Margaret KM; Monteiro, Glória Regina GR; Nobre, Maurício Lisboa ML; Dias, Márcia Sousa MS; Trindade Neto, Pedro Bezerra PB; Queiroz, Maria do Carmo Palmeira Mdo C; Gomes, Carlos Eduardo Maia CE; Blackwell, Jenefer Mary JM; Jeronimo, Selma Maria Bezerra SM

Publication Date: 2014-04

Variant appearance in text: rs1810132

PubMed Link: 24676663

Variant Present in the following documents:

• Main text
• 0074-0276-mioc-109-02-00182.pdf

View BVdb publication page

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Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment

Slattery, Martha L ML; John, Esther M EM; Stern, Mariana C MC; Herrick, Jennifer J; Lundgreen, Abbie A; Giuliano, Anna R AR; Hines, Lisa L; Baumgartner, Kathy B KB; Torres-Mejia, Gabriela G; Wolff, Roger K RK

Publication Date: 2013-08

Variant appearance in text: rs1810132

PubMed Link: 23912956

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Nature Genetics

Torgerson, Dara G DG; Ampleford, Elizabeth J EJ; Chiu, Grace Y GY; Gauderman, W James WJ; Gignoux, Christopher R CR; Graves, Penelope E PE; Himes, Blanca E BE; Levin, Albert M AM; Mathias, Rasika A RA; Hancock, Dana B DB; Baurley, James W JW; Eng, Celeste C; Stern, Debra A DA; Celedón, Juan C JC; Rafaels, Nicholas N; Capurso, Daniel D; Conti, David V DV; Roth, Lindsey A LA; Soto-Quiros, Manuel M; Togias, Alkis A; Li, Xingnan X; Myers, Rachel A RA; Romieu, Isabelle I; Van Den Berg, David J DJ; Hu, Donglei D; Hansel, Nadia N NN; Hernandez, Ryan D RD; Israel, Elliott E; Salam, Muhammad T MT; Galanter, Joshua J; Avila, Pedro C PC; Avila, Lydiana L; Rodriquez-Santana, Jose R JR; Chapela, Rocio R; Rodriguez-Cintron, William W; Diette, Gregory B GB; Adkinson, N Franklin NF; Abel, Rebekah A RA; Ross, Kevin D KD; Shi, Min M; Faruque, Mezbah U MU; Dunston, Georgia M GM; Watson, Harold R HR; Mantese, Vito J VJ; Ezurum, Serpil C SC; Liang, Liming L; Ruczinski, Ingo I; Ford, Jean G JG; Huntsman, Scott S; Chung, Kian Fan KF; Vora, Hita H; Li, Xia X; Calhoun, William J WJ; Castro, Mario M; Sienra-Monge, Juan J JJ; del Rio-Navarro, Blanca B; Deichmann, Klaus A KA; Heinzmann, Andrea A; Wenzel, Sally E SE; Busse, William W WW; Gern, James E JE; Lemanske, Robert F RF; Beaty, Terri H TH; Bleecker, Eugene R ER; Raby, Benjamin A BA; Meyers, Deborah A DA; London, Stephanie J SJ; , ; Gilliland, Frank D FD; , ; Burchard, Esteban G EG; , ; Martinez, Fernando D FD; , ; Weiss, Scott T ST; , ; Williams, L Keoki LK; , ; Barnes, Kathleen C KC; , ; Ober, Carole C; Nicolae, Dan L DL

Publication Date: 2011-07-31

Variant appearance in text: rs1810132

PubMed Link: 21804549

Variant Present in the following documents:

• NIHMS304749-supplement-1.pdf

View BVdb publication page

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Assessment of hepatocyte growth factor in ovarian cancer mortality.

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

Goode, Ellen L EL; Chenevix-Trench, Georgia G; Hartmann, Lynn C LC; Fridley, Brooke L BL; Kalli, Kimberly R KR; Vierkant, Robert A RA; Larson, Melissa C MC; White, Kristin L KL; Keeney, Gary L GL; Oberg, Trynda N TN; Cunningham, Julie M JM; Beesley, Jonathan J; Johnatty, Sharon E SE; Chen, Xiaoqing X; Goodman, Katelyn E KE; Armasu, Sebastian M SM; Rider, David N DN; Sicotte, Hugues H; Schmidt, Michele M MM; Elliott, Elaine A EA; Høgdall, Estrid E; Kjær, Susanne Krüger SK; Fasching, Peter A PA; Ekici, Arif B AB; Lambrechts, Diether D; Despierre, Evelyn E; Høgdall, Claus C; Lundvall, Lene L; Karlan, Beth Y BY; Gross, Jenny J; Brown, Robert R; Chien, Jeremy J; Duggan, David J DJ; Tsai, Ya-Yu YY; Phelan, Catherine M CM; Kelemen, Linda E LE; Peethambaram, Prema P PP; Schildkraut, Joellen M JM; Shridhar, Vijayalakshmi V; Sutphen, Rebecca R; Couch, Fergus J FJ; Sellers, Thomas A TA; ,

Publication Date: 2011-08

Variant appearance in text: rs1810132

PubMed Link: 21724856

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic effects and modifiers of radiotherapy and chemotherapy on survival in pancreatic cancer.

Pancreas

Zeng, Hongmei H; Yu, Herbert H; Lu, Lingeng L; Jain, Dhanpat D; Kidd, Mark S MS; Saif, M Wasif MW; Chanock, Stephen J SJ; Hartge, Patricia P; , ; Risch, Harvey A HA

Publication Date: 2011-07

Variant appearance in text: rs1810132

PubMed Link: 21487324

Variant Present in the following documents:

• Main text

View BVdb publication page

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HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.

British Journal Of Cancer

Benusiglio, P R PR; Pharoah, P D PD; Smith, P L PL; Lesueur, F F; Conroy, D D; Luben, R N RN; Dew, G G; Jordan, C C; Dunning, A A; Easton, D F DF; Ponder, B A J BA

Publication Date: 2006-12-18

Variant appearance in text: rs1810132

PubMed Link: 17117180

Variant Present in the following documents:

• Main text
• 95-6603473a.pdf

View BVdb publication page

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Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case-control study.

Breast Cancer Research : Bcr

Benusiglio, Patrick R PR; Lesueur, Fabienne F; Luccarini, Craig C; Conroy, Donald M DM; Shah, Mitul M; Easton, Douglas F DF; Day, Nick E NE; Dunning, Alison M AM; Pharoah, Paul D PD; Ponder, Bruce Aj BA

Publication Date: 2005

Variant appearance in text: rs1810132

PubMed Link: 15743501

Variant Present in the following documents:

• Main text
• bcr982.pdf

View BVdb publication page

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