Publications:

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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: KRAS: 13A>G; Lys5Glu

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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Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics

Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y

Publication Date: 2023-02-04

Variant appearance in text: KRAS: 13A>G; K5E

PubMed Link: 36739388

Variant Present in the following documents:

• 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Bmc Medical Genomics

Farncombe, Kirsten M KM; Thain, Emily E; Barnett-Tapia, Carolina C; Sadeghian, Hamid H; Kim, Raymond H RH

Publication Date: 2022-07-15

Variant appearance in text: KRAS: Lys5Glu

PubMed Link: 35840934

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1304.pdf

View BVdb publication page

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Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: KRAS: 13A>G

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: KRAS: 13A>G; K5E

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Case Reports In Neurology

Ando, Yoshihito Y; Sawada, Mikio M; Kawakami, Tadataka T; Morita, Mitsuya M; Aoki, Yoko Y

Publication Date: 2021

Variant appearance in text: KRAS: Lys5Glu

PubMed Link: 33790768

Variant Present in the following documents:

• Main text
• crn-0013-0108.pdf

View BVdb publication page

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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: KRAS: 13A>G; K5E

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: KRAS: 13A>G; K5E

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KRAS: 13A>G; Lys5Glu

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: KRAS: K5E

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KRAS: K5E

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: KRAS: 13A>G; K5E

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome.

Esc Heart Failure

Yamamoto, Masahiro M; Takashio, Seiji S; Nakashima, Naoya N; Hanatani, Shinsuke S; Arima, Yuichiro Y; Sakamoto, Kenji K; Yamamoto, Eiichiro E; Kaikita, Koichi K; Aoki, Yoko Y; Tsujita, Kenichi K

Publication Date: 2020-04

Variant appearance in text: KRAS: 13A>G; K5E

PubMed Link: 32078254

Variant Present in the following documents:

• Main text
• EHF2-7-721.pdf

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KRAS: 13A>G; K5E

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications

Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP

Publication Date: 2019-11-26

Variant appearance in text: KRAS: K5E

PubMed Link: 31772163

Variant Present in the following documents:

• 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Deep single-cell RNA sequencing data of individual T cells from treatment-naïve colorectal cancer patients.

Scientific Data

Zhang, Yuanyuan Y; Zheng, Liangtao L; Zhang, Lei L; Hu, Xueda X; Ren, Xianwen X; Zhang, Zemin Z

Publication Date: 2019-07-24

Variant appearance in text: KRAS: K5E

PubMed Link: 31341169

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: rs193929331

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KRAS: K5E; rs193929331

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: KRAS: K5E

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Scientific Reports

Leung, Gordon K C GKC; Luk, H M HM; Tang, Vincent H M VHM; Gao, W W WW; Mak, Christopher C Y CCY; Yu, Mullin H C MHC; Wong, W L WL; Chu, Yoyo W Y YWY; Yang, W L WL; Wong, Wilfred H S WHS; Ma, Alvin C H ACH; Leung, Anskar Y H AYH; Jin, D Y DY; Chan, Kelvin Y K KYK; Allanson, Judith J; Lo, Ivan F M IFM; Chung, Brian H Y BHY

Publication Date: 2018-02-05

Variant appearance in text: KRAS: 13A>G

PubMed Link: 29402968

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20894.pdf

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: rs193929331

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KRAS: 13A>G; Lys5Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Nature Communications

Merlevede, Jane J; Droin, Nathalie N; Qin, Tingting T; Meldi, Kristen K; Yoshida, Kenichi K; Morabito, Margot M; Chautard, Emilie E; Auboeuf, Didier D; Fenaux, Pierre P; Braun, Thorsten T; Itzykson, Raphael R; de Botton, Stéphane S; Quesnel, Bruno B; Commes, Thérèse T; Jourdan, Eric E; Vainchenker, William W; Bernard, Olivier O; Pata-Merci, Noemie N; Solier, Stéphanie S; Gayevskiy, Velimir V; Dinger, Marcel E ME; Cowley, Mark J MJ; Selimoglu-Buet, Dorothée D; Meyer, Vincent V; Artiguenave, François F; Deleuze, Jean-François JF; Preudhomme, Claude C; Stratton, Michael R MR; Alexandrov, Ludmil B LB; Padron, Eric E; Ogawa, Seishi S; Koscielny, Serge S; Figueroa, Maria M; Solary, Eric E

Publication Date: 2016-02-24

Variant appearance in text: KRAS: K5E

PubMed Link: 26908133

Variant Present in the following documents:

• ncomms10767-s2.xls, sheet 1

View BVdb publication page

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LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.

Bmc Bioinformatics

Melloni, Giorgio E M GE; de Pretis, Stefano S; Riva, Laura L; Pelizzola, Mattia M; Céol, Arnaud A; Costanza, Jole J; Müller, Heiko H; Zammataro, Luca L

Publication Date: 2016-02-09

Variant appearance in text: rs193929331

PubMed Link: 26860319

Variant Present in the following documents:

• 12859_2016_935_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.

Bmc Medical Genetics

Farschtschi, Said S; Mautner, Victor-Felix VF; Hollants, Silke S; Hagel, Christian C; Spaepen, Marijke M; Schulte, Christoph C; Legius, Eric E; Brems, Hilde H

Publication Date: 2015-02-10

Variant appearance in text: KRAS: Lys5Glu

PubMed Link: 25928347

Variant Present in the following documents:

• Main text
• 12881_2015_Article_146.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: KRAS: K5E

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Tegumentary manifestations of Noonan and Noonan-related syndromes.

Clinics (Sao Paulo, Brazil)

Quaio, Caio Robledo D'Angioli Costa CR; de Almeida, Tatiana Ferreira TF; Brasil, Amanda Salem AS; Pereira, Alexandre C AC; Jorge, Alexander A L AA; Malaquias, Alexsandra C AC; Kim, Chong Ae CA; Bertola, Débora Romeo DR

Publication Date: 2013

Variant appearance in text: KRAS: K5E

PubMed Link: 24037001

Variant Present in the following documents:

• Main text
• cln-68-08-1079.pdf

View BVdb publication page

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