Publications:

Challenges and Opportunities in Understanding Genetics of Fungal Diseases: Towards a Functional Genomics Approach.

Infection And Immunity

Bruno, Mariolina M; Matzaraki, Vasiliki V; van de Veerdonk, Frank L FL; Kumar, Vinod V; Netea, Mihai G MG

Publication Date: 2021-07-15

Variant appearance in text: rs2306894

PubMed Link: 34031131

Variant Present in the following documents:

• Main text

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Phagosomal removal of fungal melanin reprograms macrophage metabolism to promote antifungal immunity.

Nature Communications

Gonçalves, Samuel M SM; Duarte-Oliveira, Cláudio C; Campos, Cláudia F CF; Aimanianda, Vishukumar V; Ter Horst, Rob R; Leite, Luis L; Mercier, Toine T; Pereira, Paulo P; Fernández-García, Miguel M; Antunes, Daniela D; Rodrigues, Cláudia S CS; Barbosa-Matos, Catarina C; Gaifem, Joana J; Mesquita, Inês I; Marques, António A; Osório, Nuno S NS; Torrado, Egídio E; Rodrigues, Fernando F; Costa, Sandra S; Joosten, Leo Ab LA; Lagrou, Katrien K; Maertens, Johan J; Lacerda, João F JF; Campos, António A; Brown, Gordon D GD; Brakhage, Axel A AA; Barbas, Coral C; Silvestre, Ricardo R; van de Veerdonk, Frank L FL; Chamilos, Georgios G; Netea, Mihai G MG; Latgé, Jean-Paul JP; Cunha, Cristina C; Carvalho, Agostinho A

Publication Date: 2020-05-08

Variant appearance in text: rs2306894

PubMed Link: 32385235

Variant Present in the following documents:

• Main text
• 41467_2020_Article_16120.pdf

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2306894

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs2306894

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2306894

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page