Publications:

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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: KRAS: S65I

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Blood

Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A

Publication Date: 2022-10-12

Variant appearance in text: KRAS: S65I

PubMed Link: 36223594

Variant Present in the following documents:

• BLOOD_BLD-2022-017010-mmc2.xlsx, sheet 1

View BVdb publication page

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Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Genome Biology

Thirunavukarasu, Deepak D; Cheng, Lauren Y LY; Song, Ping P; Chen, Sherry X SX; Borad, Mitesh J MJ; Kwong, Lawrence L; James, Phillip P; Turner, Daniel J DJ; Zhang, David Yu DY

Publication Date: 2021-09-06

Variant appearance in text: KRAS: 194G>T; S65I

PubMed Link: 34482832

Variant Present in the following documents:

• 13059_2021_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.

Bioinformatics (Oxford, England)

Tripathi, Swarnendu S; Dsouza, Nikita R NR; Urrutia, Raul R; Zimmermann, Michael T MT

Publication Date: 2021-06-16

Variant appearance in text: KRAS: S65I

PubMed Link: 33226070

Variant Present in the following documents:

• Main text
• btaa972.pdf

View BVdb publication page

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Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica

Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP

Publication Date: 2021-12-01

Variant appearance in text: KRAS: S65I

PubMed Link: 33147938

Variant Present in the following documents:

• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3

View BVdb publication page

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Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica

Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP

Publication Date: 2021-12-01

Variant appearance in text: KRAS: S65I

PubMed Link: 33147938

Variant Present in the following documents:

• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: S65I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: KRAS: 194G>T; Ser65Ile

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

View BVdb publication page

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The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Nature Communications

Landau, Dan A DA; Sun, Clare C; Rosebrock, Daniel D; Herman, Sarah E M SEM; Fein, Joshua J; Sivina, Mariela M; Underbayev, Chingiz C; Liu, Delong D; Hoellenriegel, Julia J; Ravichandran, Sarangan S; Farooqui, Mohammed Z H MZH; Zhang, Wandi W; Cibulskis, Carrie C; Zviran, Asaf A; Neuberg, Donna S DS; Livitz, Dimitri D; Bozic, Ivana I; Leshchiner, Ignaty I; Getz, Gad G; Burger, Jan A JA; Wiestner, Adrian A; Wu, Catherine J CJ

Publication Date: 2017-12-19

Variant appearance in text: KRAS: S65I

PubMed Link: 29259203

Variant Present in the following documents:

• 41467_2017_2329_MOESM6_ESM.xlsx, sheet 1
• 41467_2017_2329_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: KRAS: 194G>T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Blood Cancer Journal

Kortuem, K M KM; Braggio, E E; Bruins, L L; Barrio, S S; Shi, C S CS; Zhu, Y X YX; Tibes, R R; Viswanatha, D D; Votruba, P P; Ahmann, G G; Fonseca, R R; Jedlowski, P P; Schlam, I I; Kumar, S S; Bergsagel, P L PL; Stewart, A K AK

Publication Date: 2016-02-26

Variant appearance in text: KRAS: Ser65Ile

PubMed Link: 26918361

Variant Present in the following documents:

• bcj20161x1.pdf

View BVdb publication page

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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Jama Oncology

Parsons, D Williams DW; Roy, Angshumoy A; Yang, Yaping Y; Wang, Tao T; Scollon, Sarah S; Bergstrom, Katie K; Kerstein, Robin A RA; Gutierrez, Stephanie S; Petersen, Andrea K AK; Bavle, Abhishek A; Lin, Frank Y FY; López-Terrada, Dolores H DH; Monzon, Federico A FA; Hicks, M John MJ; Eldin, Karen W KW; Quintanilla, Norma M NM; Adesina, Adekunle M AM; Mohila, Carrie A CA; Whitehead, William W; Jea, Andrew A; Vasudevan, Sanjeev A SA; Nuchtern, Jed G JG; Ramamurthy, Uma U; McGuire, Amy L AL; Hilsenbeck, Susan G SG; Reid, Jeffrey G JG; Muzny, Donna M DM; Wheeler, David A DA; Berg, Stacey L SL; Chintagumpala, Murali M MM; Eng, Christine M CM; Gibbs, Richard A RA; Plon, Sharon E SE

Publication Date: 2016-05-01

Variant appearance in text: KRAS: 194G>T; S65I

PubMed Link: 26822237

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular spectrum of BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias: implication for MEK-ERK pathway activation.

Oncotarget

Lionetti, Marta M; Barbieri, Marzia M; Todoerti, Katia K; Agnelli, Luca L; Marzorati, Simona S; Fabris, Sonia S; Ciceri, Gabriella G; Galletti, Serena S; Milesi, Giulia G; Manzoni, Martina M; Mazzoni, Mara M; Greco, Angela A; Tonon, Giovanni G; Musto, Pellegrino P; Baldini, Luca L; Neri, Antonino A

Publication Date: 2015-09-15

Variant appearance in text: KRAS: S65I

PubMed Link: 26090869

Variant Present in the following documents:

• oncotarget-06-24205-s001.pdf

View BVdb publication page

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