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: rs17199328

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: rs17199328

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology

Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2021

Variant appearance in text: rs17199328

PubMed Link: 34650566

Variant Present in the following documents:

• Table_3.xlsx, sheet 3
• Table_3.xlsx, sheet 4
• Table_3.xlsx, sheet 1
• Table_3.xlsx, sheet 5
• Table_3.xlsx, sheet 2

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: rs17199328

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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Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.

Plos Genetics

Lundtoft, Christian C; Pucholt, Pascal P; Imgenberg-Kreuz, Juliana J; Carlsson-Almlöf, Jonas J; Eloranta, Maija-Leena ML; Syvänen, Ann-Christine AC; Nordmark, Gunnel G; Sandling, Johanna K JK; Kockum, Ingrid I; Olsson, Tomas T; Rönnblom, Lars L; Hagberg, Niklas N

Publication Date: 2020-10

Variant appearance in text: rs17199328

PubMed Link: 33104735

Variant Present in the following documents:

• Main text
• pgen.1009199.pdf

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: rs17199328

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Genetic Epidemiology

Stanaway, Ian B IB; Hall, Taryn O TO; Rosenthal, Elisabeth A EA; Palmer, Melody M; Naranbhai, Vivek V; Knevel, Rachel R; Namjou-Khales, Bahram B; Carroll, Robert J RJ; Kiryluk, Krzysztof K; Gordon, Adam S AS; Linder, Jodell J; Howell, Kayla Marie KM; Mapes, Brandy M BM; Lin, Frederick T J FTJ; Joo, Yoonjung Yoonie YY; Hayes, M Geoffrey MG; Gharavi, Ali G AG; Pendergrass, Sarah A SA; Ritchie, Marylyn D MD; de Andrade, Mariza M; Croteau-Chonka, Damien C DC; Raychaudhuri, Soumya S; Weiss, Scott T ST; Lebo, Matt M; Amr, Sami S SS; Carrell, David D; Larson, Eric B EB; Chute, Christopher G CG; Rasmussen-Torvik, Laura Jarmila LJ; Roy-Puckelwartz, Megan J MJ; Sleiman, Patrick P; Hakonarson, Hakon H; Li, Rongling R; Karlson, Elizabeth W EW; Peterson, Josh F JF; Kullo, Iftikhar J IJ; Chisholm, Rex R; Denny, Joshua Charles JC; Jarvik, Gail P GP; , ; Crosslin, David R DR

Publication Date: 2019-02

Variant appearance in text: rs17199328

PubMed Link: 30298529

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correcting for Population Stratification Reduces False Positive and False Negative Results in Joint Analyses of Host and Pathogen Genomes.

Frontiers In Genetics

Naret, Olivier O; Chaturvedi, Nimisha N; Bartha, Istvan I; Hammer, Christian C; Fellay, Jacques J; ,

Publication Date: 2018

Variant appearance in text: rs17199328

PubMed Link: 30105048

Variant Present in the following documents:

• Main text
• fgene-09-00266.pdf

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs17199328

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.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: rs17199328

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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