Publications:

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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: rs2254958

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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The Potential Role of Protein Kinase R as a Regulator of Age-Related Neurodegeneration.

Frontiers In Aging Neuroscience

Martinez, Nicolás W NW; Gómez, Felipe E FE; Matus, Soledad S

Publication Date: 2021

Variant appearance in text: rs2254958

PubMed Link: 33994991

Variant Present in the following documents:

• Main text
• fnagi-13-638208.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2254958

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2254958

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2254958

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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PKR: A Kinase to Remember.

Frontiers In Molecular Neuroscience

Gal-Ben-Ari, Shunit S; Barrera, Iliana I; Ehrlich, Marcelo M; Rosenblum, Kobi K

Publication Date: 2018

Variant appearance in text: rs2254958

PubMed Link: 30686999

Variant Present in the following documents:

• Main text
• fnmol-11-00480.pdf

View BVdb publication page

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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs2254958

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

View BVdb publication page

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PKR involvement in Alzheimer's disease.

Alzheimer'S Research & Therapy

Hugon, Jacques J; Mouton-Liger, François F; Dumurgier, Julien J; Paquet, Claire C

Publication Date: 2017-10-05

Variant appearance in text: rs2254958

PubMed Link: 28982375

Variant Present in the following documents:

• Main text
• 13195_2017_Article_308.pdf

View BVdb publication page

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Detection of gene-environment interactions in the presence of linkage disequilibrium and noise by using genetic risk scores with internal weights from elastic net regression.

Bmc Genetics

Hüls, Anke A; Ickstadt, Katja K; Schikowski, Tamara T; Krämer, Ursula U

Publication Date: 2017-06-12

Variant appearance in text: rs2254958

PubMed Link: 28606108

Variant Present in the following documents:

• Main text
• 12863_2017_Article_519.pdf

View BVdb publication page

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Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.

Human Genome Variation

Artemov, Artem V AV; Boulygina, Eugenia S ES; Tsygankova, Svetlana V SV; Nedoluzhko, Artem V AV; Chekanov, Nikolay N NN; Gruzdeva, Natalia M NM; Selezneva, Natalia D ND; Roshchina, Irina F IF; Gavrilova, Svetlana I SI; Velichkovsky, Boris B BB; Skryabin, Konstantin G KG; Prokhortchouk, Egor B EB

Publication Date: 2014

Variant appearance in text: rs2254958

PubMed Link: 27081498

Variant Present in the following documents:

View BVdb publication page

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Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.

Hepatology (Baltimore, Md.)

Welzel, Tania Mara TM; Morgan, Timothy R TR; Bonkovsky, Herbert L HL; Naishadham, Deepa D; Pfeiffer, Ruth M RM; Wright, Elizabeth C EC; Hutchinson, Amy A AA; Crenshaw, Andrew T AT; Bashirova, Arman A; Carrington, Mary M; Dotrang, Myhanh M; Sterling, Richard K RK; Lindsay, Karen L KL; Fontana, Robert J RJ; Lee, William M WM; Di Bisceglie, Adrian M AM; Ghany, Marc G MG; Gretch, David R DR; Chanock, Stephen J SJ; Chung, Raymond T RT; O'Brien, Thomas R TR; ,

Publication Date: 2009-06

Variant appearance in text: rs2254958

PubMed Link: 19434718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fatal multiorgan failure due to yellow fever vaccine-associated viscerotropic disease.

Vaccine

Belsher, Jon L JL; Gay, Peter P; Brinton, Margo M; DellaValla, Joseph J; Ridenour, Robert R; Lanciotti, Robert R; Perelygin, Andrey A; Zaki, Sherif S; Paddock, Christopher C; Querec, Troy T; Zhu, Tuofu T; Pulendran, Bali B; Eidex, Rachel B RB; Hayes, Edward E

Publication Date: 2007-12-05

Variant appearance in text: rs2254958

PubMed Link: 18023511

Variant Present in the following documents:

• main.pdf

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Gene-environment interaction effects on the development of immune responses in the 1st year of life.

American Journal Of Human Genetics

Hoffjan, Sabine S; Nicolae, Dan D; Ostrovnaya, Irina I; Roberg, Kathy K; Evans, Michael M; Mirel, Daniel B DB; Steiner, Lori L; Walker, Karen K; Shult, Peter P; Gangnon, Ronald E RE; Gern, James E JE; Martinez, Fernando D FD; Lemanske, Robert F RF; Ober, Carole C

Publication Date: 2005-04

Variant appearance in text: rs2254958

PubMed Link: 15726497

Variant Present in the following documents:

• Main text

View BVdb publication page

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