Publications:

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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: rs7219

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs7219

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Von Hippel-Lindau gene single nucleotide polymorphism (rs1642742) may be related to the occurrence and metastasis of HBV-related hepatocellular carcinoma.

Medicine

Chen, Xuebing X; Zhang, Hao H; Ou, Shimei S; Chen, Huijuan H

Publication Date: 2021-09-03

Variant appearance in text: rs7219

PubMed Link: 34477178

Variant Present in the following documents:

• Main text
• medi-100-e27187.pdf

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: rs7219

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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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs7219

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: rs7219

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

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Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal Of Human Genetics : Ejhg

Ferrari, Luca L; Mangano, Eleonora E; Bonati, Maria Teresa MT; Monterosso, Ilaria I; Capitanio, Daniele D; Chiappori, Federica F; Brambilla, Ilaria I; Gelfi, Cecilia C; Battaglia, Cristina C; Bordoni, Roberta R; Riva, Paola P

Publication Date: 2020-10

Variant appearance in text: rs7219

PubMed Link: 32514133

Variant Present in the following documents:

• 41431_2020_658_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Rare and common variants analysis of the EMB gene in patients with schizophrenia.

Bmc Psychiatry

Zhou, Juan J; Ma, Chuanchuan C; Wang, Ke K; Li, Xiuli X; Zhang, Han H; Chen, Jianhua J; Li, Zhiqiang Z; Shi, Yongyong Y

Publication Date: 2020-03-25

Variant appearance in text: rs7219

PubMed Link: 32213169

Variant Present in the following documents:

• Main text
• 12888_2020_Article_2513.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs7219

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Transancestral mapping and genetic load in systemic lupus erythematosus.

Nature Communications

Langefeld, Carl D CD; Ainsworth, Hannah C HC; Cunninghame Graham, Deborah S DS; Kelly, Jennifer A JA; Comeau, Mary E ME; Marion, Miranda C MC; Howard, Timothy D TD; Ramos, Paula S PS; Croker, Jennifer A JA; Morris, David L DL; Sandling, Johanna K JK; Almlöf, Jonas Carlsson JC; Acevedo-Vásquez, Eduardo M EM; Alarcón, Graciela S GS; Babini, Alejandra M AM; Baca, Vicente V; Bengtsson, Anders A AA; Berbotto, Guillermo A GA; Bijl, Marc M; Brown, Elizabeth E EE; Brunner, Hermine I HI; Cardiel, Mario H MH; Catoggio, Luis L; Cervera, Ricard R; Cucho-Venegas, Jorge M JM; Dahlqvist, Solbritt Rantapää SR; D'Alfonso, Sandra S; Da Silva, Berta Martins BM; de la Rúa Figueroa, Iñigo I; Doria, Andrea A; Edberg, Jeffrey C JC; Endreffy, Emőke E; Esquivel-Valerio, Jorge A JA; Fortin, Paul R PR; Freedman, Barry I BI; Frostegård, Johan J; García, Mercedes A MA; de la Torre, Ignacio García IG; Gilkeson, Gary S GS; Gladman, Dafna D DD; Gunnarsson, Iva I; Guthridge, Joel M JM; Huggins, Jennifer L JL; James, Judith A JA; Kallenberg, Cees G M CGM; Kamen, Diane L DL; Karp, David R DR; Kaufman, Kenneth M KM; Kottyan, Leah C LC; Kovács, László L; Laustrup, Helle H; Lauwerys, Bernard R BR; Li, Quan-Zhen QZ; Maradiaga-Ceceña, Marco A MA; Martín, Javier J; McCune, Joseph M JM; McWilliams, David R DR; Merrill, Joan T JT; Miranda, Pedro P; Moctezuma, José F JF; Nath, Swapan K SK; Niewold, Timothy B TB; Orozco, Lorena L; Ortego-Centeno, Norberto N; Petri, Michelle M; Pineau, Christian A CA; Pons-Estel, Bernardo A BA; Pope, Janet J; Raj, Prithvi P; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Russell, Laurie P LP; Sabio, José M JM; Aguilar-Salinas, Carlos A CA; Scherbarth, Hugo R HR; Scorza, Raffaella R; Seldin, Michael F MF; Sjöwall, Christopher C; Svenungsson, Elisabet E; Thompson, Susan D SD; Toloza, Sergio M A SMA; Truedsson, Lennart L; Tusié-Luna, Teresa T; Vasconcelos, Carlos C; Vilá, Luis M LM; Wallace, Daniel J DJ; Weisman, Michael H MH; Wither, Joan E JE; Bhangale, Tushar T; Oksenberg, Jorge R JR; Rioux, John D JD; Gregersen, Peter K PK; Syvänen, Ann-Christine AC; Rönnblom, Lars L; Criswell, Lindsey A LA; Jacob, Chaim O CO; Sivils, Kathy L KL; Tsao, Betty P BP; Schanberg, Laura E LE; Behrens, Timothy W TW; Silverman, Earl D ED; Alarcón-Riquelme, Marta E ME; Kimberly, Robert P RP; Harley, John B JB; Wakeland, Edward K EK; Graham, Robert R RR; Gaffney, Patrick M PM; Vyse, Timothy J TJ

Publication Date: 2017-07-17

Variant appearance in text: rs7219

PubMed Link: 28714469

Variant Present in the following documents:

• Main text
• ncomms16021.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs7219

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs7219

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma.

Plos One

Arroyo-Berdugo, Yoana Y; Alonso, Santos S; Ribas, Gloría G; Ibarrola-Villava, Maider M; Peña-Chilet, María M; Martínez-Cadenas, Conrado C; Gardeazabal, Jesús J; Ratón-Nieto, Juan Antonio JA; Sánchez-Díez, Ana A; Careaga, Jesús María JM; Pérez-Yarza, Gorka G; Carretero, Gregorio G; Martín-González, Manuel M; Gómez-Fernández, Cristina C; Nagore, Eduardo E; Asumendi, Aintzane A; Boyano, María Dolores MD

Publication Date: 2014

Variant appearance in text: rs7219

PubMed Link: 24743186

Variant Present in the following documents:

• Main text
• pone.0095522.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs7219

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway.

Human Mutation

Paré-Brunet, Laia L; Glubb, Dylan D; Evans, Patrick P; Berenguer-Llergo, Antoni A; Etheridge, Amy S AS; Skol, Andrew D AD; Di Rienzo, Anna A; Duan, Shiwei S; Gamazon, Eric R ER; Innocenti, Federico F

Publication Date: 2014-02

Variant appearance in text: rs7219

PubMed Link: 24186849

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs7219

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

View BVdb publication page

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