Publications:

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: 1037T>A; Ile346Asn

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: MSH2: 1037T>A; Ile346Asn

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s009.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: I346N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.

Scientific Reports

Yu, Yang Y; Dong, Li L; Li, Dapeng D; Chuai, Shaokun S; Wu, Zhigang Z; Zheng, Xiangqian X; Cheng, Yanan Y; Han, Lei L; Yu, Jinpu J; Gao, Ming M

Publication Date: 2015-11-04

Variant appearance in text: MSH2: I346N

PubMed Link: 26530882

Variant Present in the following documents:

• srep16129-s2.xls, sheet 1

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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: 1037T>A; I346N

PubMed Link: 23690608

Variant Present in the following documents:

• Main text

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