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: TLR4: C281Y; rs137853920

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TLR4: C281Y; rs137853920

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Journal Of Clinical Medicine

Loules, Gedeon G; Parsopoulou, Faidra F; Zamanakou, Maria M; Csuka, Dorottya D; Bova, Maria M; González-Quevedo, Teresa T; Psarros, Fotis F; Porebski, Gregor G; Speletas, Matthaios M; Firinu, Davide D; Del Giacco, Stefano S; Suffritti, Chiara C; Makris, Michael M; Vatsiou, Sofia S; Zanichelli, Andrea A; Farkas, Henriette H; Germenis, Anastasios E AE

Publication Date: 2020-10-23

Variant appearance in text: TLR4: 842G>A; Cys281Tyr; rs137853920

PubMed Link: 33114181

Variant Present in the following documents:

• Main text
• jcm-09-03402.pdf

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: TLR4: 842G>A; C281Y

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: TLR4: C281Y; rs137853920

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population.

Bmc Medical Genetics

Henmyr, V V; Carlberg, D D; Manderstedt, E E; Lind-Halldén, C C; Säll, T T; Cardell, L O LO; Halldén, C C

Publication Date: 2017-02-23

Variant appearance in text: TLR4: C281Y

PubMed Link: 28228119

Variant Present in the following documents:

• 12881_2017_379_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: TLR4: C281Y

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: TLR4: C281Y

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: TLR4: C281Y

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One

Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K

Publication Date: 2013

Variant appearance in text: TLR4: C281Y

PubMed Link: 24205039

Variant Present in the following documents:

• pone.0077945.s001.xls, sheet 3

View BVdb publication page

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Investigative Ophthalmology & Visual Science

Song, Jin J; Smaoui, Nizar N; Ayyagari, Radha R; Stiles, David D; Benhamed, Sonia S; MacDonald, Ian M IM; Daiger, Stephen P SP; Tumminia, Santa J SJ; Hejtmancik, Fielding F; Wang, Xinjing X

Publication Date: 2011-11-25

Variant appearance in text: TLR4: 842G>A; Cys281Tyr

PubMed Link: 22025579

Variant Present in the following documents:

• Main text

View BVdb publication page

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The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.

Plos One

Georgel, Philippe P; Macquin, Cécile C; Bahram, Seiamak S

Publication Date: 2009-11-17

Variant appearance in text: TLR4: C281Y

PubMed Link: 19924287

Variant Present in the following documents:

• Main text
• pone.0007803.pdf

View BVdb publication page

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Toll-like receptor 4 polymorphisms are associated with resistance to Legionnaires' disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hawn, Thomas R TR; Verbon, Annelies A; Janer, Marta M; Zhao, Lue Ping LP; Beutler, Bruce B; Aderem, Alan A

Publication Date: 2005-02-15

Variant appearance in text: TLR4: C281Y

PubMed Link: 15699327

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Smirnova, Irina I; Mann, Navjiwan N; Dols, Annemiek A; Derkx, H H HH; Hibberd, Martin L ML; Levin, Michael M; Beutler, Bruce B

Publication Date: 2003-05-13

Variant appearance in text: TLR4: C281Y

PubMed Link: 12730365

Variant Present in the following documents:

• Main text

View BVdb publication page

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