Publications:

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Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Biorxiv : The Preprint Server For Biology

Liu, Mei Hong MH; Costa, Benjamin B; Choi, Una U; Bandler, Rachel C RC; Lassen, Emilie E; Grońska-Pęski, Marta M; Schwing, Adam A; Murphy, Zachary R ZR; Rosenkjær, Daniel D; Picciotto, Shany S; Bianchi, Vanessa V; Stengs, Lucie L; Edwards, Melissa M; Loh, Caitlin A CA; Truong, Tina K TK; Brand, Randall E RE; Pastinen, Tomi T; Wagner, J Richard JR; Skytte, Anne-Bine AB; Tabori, Uri U; Shoag, Jonathan E JE; Evrony, Gilad D GD

Publication Date: 2023-02-19

Variant appearance in text: MSH2: I356R

PubMed Link: 36824744

Variant Present in the following documents:

• media-1.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MSH2: 1067T>G; Ile356Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MSH2: I356R

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: 1067T>G; Ile356Arg

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH2: 1067T>G; I356R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: MSH2: 1067T>G; I356R

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1

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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: I356R

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: 1067T>G; I356R

PubMed Link: 23690608

Variant Present in the following documents:

• Main text

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