Publications:

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: GLA: 983G>A; Gly328Glu

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 3

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: G328E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Journal Of Medical Genetics

Germain, Dominique P DP; Charrow, Joel J; Desnick, Robert J RJ; Guffon, Nathalie N; Kempf, Judy J; Lachmann, Robin H RH; Lemay, Roberta R; Linthorst, Gabor E GE; Packman, Seymour S; Scott, C Ronald CR; Waldek, Stephen S; Warnock, David G DG; Weinreb, Neal J NJ; Wilcox, William R WR

Publication Date: 2015-05

Variant appearance in text: GLA: Gly328Glu

PubMed Link: 25795794

Variant Present in the following documents:

• jmedgenet-2014-102797-s1.pdf

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Fabry disease.

Orphanet Journal Of Rare Diseases

Germain, Dominique P DP

Publication Date: 2010-11-22

Variant appearance in text: GLA: 983G>A; Gly328Glu

PubMed Link: 21092187

Variant Present in the following documents:

• Main text
• 1750-1172-5-30.pdf

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