Publications:

Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology

Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S

Publication Date: 2022

Variant appearance in text: MSH2: N553K

PubMed Link: 35990641

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 2

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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: 1659C>A; Asn553Lys

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: N553K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

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

Drost, Mark M; Lützen, Anne A; van Hees, Sandrine S; Ferreira, Daniel D; Calléja, Fabienne F; Zonneveld, José B M JB; Nielsen, Finn Cilius FC; Rasmussen, Lene Juel LJ; de Wind, Niels N

Publication Date: 2013-06-04

Variant appearance in text: MSH2: 1659C>A; N553K

PubMed Link: 23690608

Variant Present in the following documents:

• Main text

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