Publications:

Tackling the emerging threat of antifungal resistance to human health.

Nature Reviews. Microbiology

Fisher, Matthew C MC; Alastruey-Izquierdo, Ana A; Berman, Judith J; Bicanic, Tihana T; Bignell, Elaine M EM; Bowyer, Paul P; Bromley, Michael M; Brüggemann, Roger R; Garber, Gary G; Cornely, Oliver A OA; Gurr, Sarah J SJ; Harrison, Thomas S TS; Kuijper, Ed E; Rhodes, Johanna J; Sheppard, Donald C DC; Warris, Adilia A; White, P Lewis PL; Xu, Jianping J; Zwaan, Bas B; Verweij, Paul E PE

Publication Date: 2022-09

Variant appearance in text: MSH2: Y121F

PubMed Link: 35352028

Variant Present in the following documents:

• Main text

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 362A>T; Y121F

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.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: MSH2: Y121F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page