Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: rs4252128

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

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The Complement and Coagulation Cascades Pathway is Associated with Acute Necrotizing Pancreatitis by Genomics and Proteomics Analysis.

Journal Of Inflammation Research

Zhang, Xinyu X; Li, Zenghui Z; Liu, Wei W; Du, Juanjuan J; Liu, Yun Y; Yu, Ningjun N; Liu, Chao C; Zeng, Mei M; Zhang, Xiaoming X

Publication Date: 2022

Variant appearance in text: rs4252128

PubMed Link: 35444447

Variant Present in the following documents:

• Main text
• jir-15-2349.pdf

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An overview of human proteins and genes involved in SARS-CoV-2 infection.

Gene

Jahanafrooz, Zohreh Z; Chen, Zhishan Z; Bao, Jiandong J; Li, Hongzhi H; Lipworth, Loren L; Guo, Xingyi X

Publication Date: 2022-01-15

Variant appearance in text: rs4252128

PubMed Link: 34530086

Variant Present in the following documents:

• Main text
• main.pdf

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Multi-omic studies on missense PLG variants in families with otitis media.

Scientific Reports

Bootpetch, Tori C TC; Hafrén, Lena L; Elling, Christina L CL; Baschal, Erin E EE; Manichaikul, Ani W AW; Pine, Harold S HS; Szeremeta, Wasyl W; Scholes, Melissa A MA; Cass, Stephen P SP; Larson, Eric D ED; Chan, Kenny H KH; Ishaq, Rafaqat R; Prager, Jeremy D JD; Shaikh, Rehan S RS; Gubbels, Samuel P SP; Yousaf, Ayesha A; , ; Wine, Todd M TM; Bamshad, Michael J MJ; Yoon, Patricia J PJ; Jenkins, Herman A HA; Nickerson, Deborah A DA; Streubel, Sven-Olrik SO; Friedman, Norman R NR; Frank, Daniel N DN; Einarsdottir, Elisabet E; Kere, Juha J; Riazuddin, Saima S; Daly, Kathleen A KA; Leal, Suzanne M SM; Ryan, Allen F AF; Mattila, Petri S PS; Ahmed, Zubair M ZM; Sale, Michele M MM; Chonmaitree, Tasnee T; Santos-Cortez, Regie Lyn P RLP

Publication Date: 2020-09-14

Variant appearance in text: rs4252128

PubMed Link: 32929111

Variant Present in the following documents:

• Main text

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Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Klaassen, Kristel K; Stankovic, Biljana B; Zukic, Branka B; Kotur, Nikola N; Gasic, Vladimir V; Pavlovic, Sonja S; Stojiljkovic, Maja M

Publication Date: 2020-10

Variant appearance in text: rs4252128

PubMed Link: 32771700

Variant Present in the following documents:

• Main text

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs4252128

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

G3 (Bethesda, Md.)

Sadovnick, A Dessa AD; Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Ross, Jay P JP; Forwell, Amanda L AL; Yee, Irene M IM; Guillot-Noel, Lena L; Fontaine, Bertrand B; Cournu-Rebeix, Isabelle I; Alcina, Antonio A; Fedetz, Maria M; Izquierdo, Guillermo G; Matesanz, Fuencisla F; Hilven, Kelly K; Dubois, Bénédicte B; Goris, An A; Astobiza, Ianire I; Alloza, Iraide I; Antigüedad, Alfredo A; Vandenbroeck, Koen K; Akkad, Denis A DA; Aktas, Orhan O; Blaschke, Paul P; Buttmann, Mathias M; Chan, Andrew A; Epplen, Joerg T JT; Gerdes, Lisa-Ann LA; Kroner, Antje A; Kubisch, Christian C; Kümpfel, Tania T; Lohse, Peter P; Rieckmann, Peter P; Zettl, Uwe K UK; Zipp, Frauke F; Bertram, Lars L; Lill, Christina M CM; Fernandez, Oscar O; Urbaneja, Patricia P; Leyva, Laura L; Alvarez-Cermeño, Jose Carlos JC; Arroyo, Rafael R; Garagorri, Aroa M AM; García-Martínez, Angel A; Villar, Luisa M LM; Urcelay, Elena E; Malhotra, Sunny S; Montalban, Xavier X; Comabella, Manuel M; Berger, Thomas T; Fazekas, Franz F; Reindl, Markus M; Schmied, Mascha C MC; Zimprich, Alexander A; Vilariño-Güell, Carles C

Publication Date: 2016-07-07

Variant appearance in text: rs4252128

PubMed Link: 27194806

Variant Present in the following documents:

• supp_g3.116.030841_TableS5.pdf

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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: rs4252128

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs4252128

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Interpretome: a freely available, modular, and secure personal genome interpretation engine.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Karczewski, Konrad J KJ; Tirrell, Robert P RP; Cordero, Pablo P; Tatonetti, Nicholas P NP; Dudley, Joel T JT; Salari, Keyan K; Snyder, Michael M; Altman, Russ B RB; Kim, Stuart K SK

Publication Date: 2012

Variant appearance in text: rs4252128

PubMed Link: 22174289

Variant Present in the following documents:

• Main text

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Inference and analysis of haplotypes from combined genotyping studies deposited in dbSNP.

Genome Research

Zaitlen, Noah A NA; Kang, Hyun Min HM; Feolo, Michael L ML; Sherry, Stephen T ST; Halperin, Eran E; Eskin, Eleazar E

Publication Date: 2005-11

Variant appearance in text: rs4252128

PubMed Link: 16251470

Variant Present in the following documents:

• Main text

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