Publications:

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: MLH1: 973C>T; R325W

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum.

Plos One

Nakanishi, Hiroyoshi H; Sawada, Takeshi T; Kaizaki, Yasuharu Y; Ota, Ryosuke R; Suzuki, Hiromu H; Yamamoto, Eiichiro E; Aoki, Hironori H; Eizuka, Makoto M; Hasatani, Kenkei K; Takahashi, Naoki N; Inagaki, Satoko S; Ebi, Masahide M; Kato, Hiroyuki H; Kubota, Eiji E; Kataoka, Hiromi H; Takahashi, Satoru S; Tokino, Takashi T; Minamoto, Toshinari T; Sugai, Tamotsu T; Sasaki, Yasushi Y

Publication Date: 2020

Variant appearance in text: MLH1: Arg325Trp

PubMed Link: 32092099

Variant Present in the following documents:

• pone.0229262.s007.xlsx, sheet 1

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: MLH1: 973C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: MLH1: 973C>T; Arg325Trp

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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Immunogenomic analyses associate immunological alterations with mismatch repair defects in prostate cancer.

The Journal Of Clinical Investigation

Nava Rodrigues, Daniel D; Rescigno, Pasquale P; Liu, David D; Yuan, Wei W; Carreira, Suzanne S; Lambros, Maryou B MB; Seed, George G; Mateo, Joaquin J; Riisnaes, Ruth R; Mullane, Stephanie S; Margolis, Claire C; Miao, Diana D; Miranda, Susana S; Dolling, David D; Clarke, Matthew M; Bertan, Claudia C; Crespo, Mateus M; Boysen, Gunther G; Ferreira, Ana A; Sharp, Adam A; Figueiredo, Ines I; Keliher, Daniel D; Aldubayan, Saud S; Burke, Kelly P KP; Sumanasuriya, Semini S; Fontes, Mariane Sousa MS; Bianchini, Diletta D; Zafeiriou, Zafeiris Z; Teixeira Mendes, Larissa Sena LS; Mouw, Kent K; Schweizer, Michael T MT; Pritchard, Colin C CC; Salipante, Stephen S; Taplin, Mary-Ellen ME; Beltran, Himisha H; Rubin, Mark A MA; Cieslik, Marcin M; Robinson, Dan D; Heath, Elizabeth E; Schultz, Nikolaus N; Armenia, Joshua J; Abida, Wassim W; Scher, Howard H; Lord, Christopher C; D'Andrea, Alan A; Sawyers, Charles L CL; Chinnaiyan, Arul M AM; Alimonti, Andrea A; Nelson, Peter S PS; Drake, Charles G CG; Van Allen, Eliezer M EM; de Bono, Johann S JS

Publication Date: 2018-10-01

Variant appearance in text: MLH1: R325W

PubMed Link: 30179225

Variant Present in the following documents:

• jci-128-121924-s168.xlsx, sheet 1

View BVdb publication page