Publications:

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The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Scientific Reports

Bisgin, Atil A; Sonmezler, Ozge O; Boga, Ibrahim I; Yilmaz, Mustafa M

Publication Date: 2021-04-15

Variant appearance in text: NFKB1: 1519A>G; M507V

PubMed Link: 33859323

Variant Present in the following documents:

• 41598_2021_87898_MOESM2_ESM.pdf
• 41598_2021_87898_MOESM3_ESM.pdf

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: NFKB1: M507V; rs4648072

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: NFKB1: 1519A>G; M507V; rs4648072

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: NFKB1: M507V; rs4648072

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal

White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH

Publication Date: 2018-03-21

Variant appearance in text: NFKB1: M507V

PubMed Link: 29563506

Variant Present in the following documents:

• 41408_2018_62_MOESM1_ESM.xls, sheet 8

View BVdb publication page

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Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Scientific Reports

Andreoletti, Gaia G; Shakhnovich, Valentina V; Christenson, Kathy K; Coelho, Tracy T; Haggarty, Rachel R; Afzal, Nadeem A NA; Batra, Akshay A; Petersen, Britt-Sabina BS; Mort, Matthew M; Beattie, R Mark RM; Ennis, Sarah S

Publication Date: 2017-04-19

Variant appearance in text: rs4648072

PubMed Link: 28422189

Variant Present in the following documents:

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4648072

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs4648072

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

View BVdb publication page

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Genetic risk factors in two Utah pedigrees at high risk for suicide.

Translational Psychiatry

Coon, H H; Darlington, T T; Pimentel, R R; Smith, K R KR; Huff, C D CD; Hu, H H; Jerominski, L L; Hansen, J J; Klein, M M; Callor, W B WB; Byrd, J J; Bakian, A A; Crowell, S E SE; McMahon, W M WM; Rajamanickam, V V; Camp, N J NJ; McGlade, E E; Yurgelun-Todd, D D; Grey, T T; Gray, D D

Publication Date: 2013-11-19

Variant appearance in text: rs4648072

PubMed Link: 24252905

Variant Present in the following documents:

• Main text
• tp2013100a.pdf

View BVdb publication page

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IκBKβ and NFκB1, NSAID use and risk of colorectal cancer in the Colon Cancer Family Registry.

Carcinogenesis

Seufert, Brenna L BL; Poole, Elizabeth M EM; Whitton, John J; Xiao, Liren L; Makar, Karen W KW; Campbell, Peter T PT; Kulmacz, Richard J RJ; Baron, John A JA; Newcomb, Polly A PA; Slattery, Martha L ML; Potter, John D JD; Ulrich, Cornelia M CM

Publication Date: 2013-01

Variant appearance in text: rs4648072

PubMed Link: 23002237

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors.

Molecular Psychiatry

Wong, M-L ML; Dong, C C; Andreev, V V; Arcos-Burgos, M M; Licinio, J J

Publication Date: 2012-06

Variant appearance in text: NFKB1: M507V; rs4648072

PubMed Link: 22449891

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology

Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2010

Variant appearance in text: NFKB1: M507V; rs4648072

PubMed Link: 21918647

Variant Present in the following documents:

• Main text
• fphar-01-00129.pdf

View BVdb publication page

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Predictive genomics of cardioembolic stroke.

Stroke

Ramoni, Rachel Badovinac RB; Himes, Blanca E BE; Sale, Michele M MM; Furie, Karen L KL; Ramoni, Marco F MF

Publication Date: 2009-03

Variant appearance in text: rs4648072

PubMed Link: 19064790

Variant Present in the following documents:

• Main text

View BVdb publication page

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