Publications:

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Plos One

Azzarà, Alessia A; Cassano, Ilaria I; Paccagnella, Elisa E; Tirindelli, Maria Cristina MC; Nobile, Carolina C; Schittone, Valentina V; Lintas, Carla C; Sacco, Roberto R; Gurrieri, Fiorella F

Publication Date: 2022

Variant appearance in text: TLR3: Leu297Val; rs35311343

PubMed Link: 36228008

Variant Present in the following documents:

• Main text
• pone.0275988.pdf

View BVdb publication page

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Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Jama Network Open

Abuhammour, Walid W; Yavuz, Lemis L; Jain, Ruchi R; Abu Hammour, Khawla K; Al-Hammouri, Ghalia F GF; El Naofal, Maha M; Halabi, Nour N; Yaslam, Sawsan S; Ramaswamy, Sathishkumar S; Taylor, Alan A; Wafadari, Deena D; Alsarhan, Ali A; Khansaheb, Hamda H; Deesi, Zulfa Omar ZO; Varghese, Rupa Murthy RM; Uddin, Mohammed M; Al Suwaidi, Hanan H; Al-Hammadi, Suleiman S; Alkhaja, Abdulmajeed A; AlDabal, Laila Mohamed LM; Loney, Tom T; Nowotny, Norbert N; Al Khayat, Abdulla A; Alsheikh-Ali, Alawi A; Abou Tayoun, Ahmad A

Publication Date: 2022-05-02

Variant appearance in text: TLR3: 889C>G; Leu297Val

PubMed Link: 35639375

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Hepatology Communications

Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM

Publication Date: 2022-08

Variant appearance in text: TLR3: L297V; rs35311343

PubMed Link: 35507738

Variant Present in the following documents:

• HEP4-6-2132-s005.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: TLR3: L297V; rs35311343

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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Genetic variability in COVID-19-related genes in the Brazilian population.

Human Genome Variation

Secolin, Rodrigo R; de Araujo, Tânia K TK; Gonsales, Marina C MC; Rocha, Cristiane S CS; Naslavsky, Michel M; Marco, Luiz De L; Bicalho, Maria A C MAC; Vazquez, Vinicius L VL; Zatz, Mayana M; Silva, Wilson A WA; Lopes-Cendes, Iscia I

Publication Date: 2021

Variant appearance in text: TLR3: 889C>G; Leu297Val; rs35311343

PubMed Link: 33824725

Variant Present in the following documents:

• 41439_2021_146_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Virus Research

Elhabyan, Abdelazeem A; Elyaacoub, Saja S; Sanad, Ehab E; Abukhadra, Abdelwahab A; Elhabyan, Asmaa A; Dinu, Valentin V

Publication Date: 2020-11

Variant appearance in text: TLR3: 889C>G; Leu297Val

PubMed Link: 32918943

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TLR3: 889C>G; Leu297Val; rs35311343

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Exome-wide search and functional annotation of genes associated in patients with severe tick-borne encephalitis in a Russian population.

Bmc Medical Genomics

Ignatieva, Elena V EV; Yurchenko, Andrey A AA; Voevoda, Mikhail I MI; Yudin, Nikolay S NS

Publication Date: 2019-05-24

Variant appearance in text: rs35311343

PubMed Link: 31122248

Variant Present in the following documents:

• Main text
• 12920_2019_Article_503.pdf

View BVdb publication page

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Viral Hypothesis and Antiviral Treatment in Alzheimer's Disease.

Current Neurology And Neuroscience Reports

Devanand, D P DP

Publication Date: 2018-07-14

Variant appearance in text: TLR3: Leu297Val

PubMed Link: 30008124

Variant Present in the following documents:

• Main text

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: TLR3: L297V; rs35311343

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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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TLR3: L297V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, 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: TLR3: L297V

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: TLR3: L297V; rs35311343

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs35311343

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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