Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: BRAF: K499E; rs180177037

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report.

Cureus

Alhalak, Rouzy R; Al-Haideri, Mohammed H MH; Khan, Arif A

Publication Date: 2023-02

Variant appearance in text: BRAF: Lys499Glu

PubMed Link: 36938251

Variant Present in the following documents:

• Main text
• cureus-0015-00000035021.pdf

View BVdb publication page

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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: BRAF: 1495A>G; Lys499Glu

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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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI

Publication Date: 2022-11-29

Variant appearance in text: BRAF: K499E

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRAF: K499E

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Co-mutations of epidermal growth factor receptor and BRAF in Chinese non-small cell lung cancer patients.

Annals Of Translational Medicine

Peng, Panli P; Lv, Guoli G; Hu, Jinwei J; Wang, Kai K; Lv, Junhong J; Guo, Gang G

Publication Date: 2021-08

Variant appearance in text: BRAF: K499E

PubMed Link: 34532458

Variant Present in the following documents:

• Main text
• atm-09-16-1321.pdf

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: BRAF: K499E

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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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: BRAF: 1495A>G; Lys499Glu

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: BRAF: K499E

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRAF: K499E

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: BRAF: K499E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: BRAF: 1495A>G; Lys499Glu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: BRAF: K499E; rs180177037

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Human Mutation

Grant, Andrew R AR; Cushman, Brandon J BJ; Cavé, Hélène H; Dillon, Mitchell W MW; Gelb, Bruce D BD; Gripp, Karen W KW; Lee, Jennifer A JA; Mason-Suares, Heather H; Rauen, Katherine A KA; Tartaglia, Marco M; Vincent, Lisa M LM; Zenker, Martin M

Publication Date: 2018-11

Variant appearance in text: BRAF: K499E

PubMed Link: 30311384

Variant Present in the following documents:

• Main text

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: BRAF: 1495A>G; Lys499Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

Genes & Development

Lim, Chae-Seok CS; Kang, Xi X; Mirabella, Vincent V; Zhang, Huaye H; Bu, Qian Q; Araki, Yoichi Y; Hoang, Elizabeth T ET; Wang, Shiqiang S; Shen, Ying Y; Choi, Sukwoo S; Kaang, Bong-Kiun BK; Chang, Qiang Q; Pang, Zhiping P ZP; Huganir, Richard L RL; Zhu, J Julius JJ

Publication Date: 2017-03-15

Variant appearance in text: BRAF: K499E

PubMed Link: 28404629

Variant Present in the following documents:

• 537.pdf
• supp_31.6.537_Supplemental_Materials.pdf

View BVdb publication page

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Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Advances In Bioinformatics

Hassan, Mohamed M MM; Omer, Shaza E SE; Khalf-Allah, Rahma M RM; Mustafa, Razaz Y RY; Ali, Isra S IS; Mohamed, Sofia B SB

Publication Date: 2016

Variant appearance in text: rs180177037

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

View BVdb publication page

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CRAF R391W is a melanoma driver oncogene.

Scientific Reports

Atefi, Mohammad M; Titz, Bjoern B; Tsoi, Jennifer J; Avramis, Earl E; Le, Allison A; Ng, Charles C; Lomova, Anastasia A; Lassen, Amanda A; Friedman, Michael M; Chmielowski, Bartosz B; Ribas, Antoni A; Graeber, Thomas G TG

Publication Date: 2016-06-08

Variant appearance in text: BRAF: K499E

PubMed Link: 27273450

Variant Present in the following documents:

• Main text
• srep27454.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRAF: K499E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: BRAF: K499E

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

View BVdb publication page

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BRAF gene: From human cancers to developmental syndromes.

Saudi Journal Of Biological Sciences

Hussain, Muhammad Ramzan Manwar MR; Baig, Mukhtiar M; Mohamoud, Hussein Sheik Ali HS; Ulhaq, Zaheer Z; Hoessli, Daniel C DC; Khogeer, Ghaidaa Siraj GS; Al-Sayed, Ranem Radwan RR; Al-Aama, Jumana Yousuf JY

Publication Date: 2015-07

Variant appearance in text: BRAF: K499E

PubMed Link: 26150740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitogen-Inducible Gene-6 Mediates Feedback Inhibition from Mutated BRAF towards the Epidermal Growth Factor Receptor and Thereby Limits Malignant Transformation.

Plos One

Milewska, Malgorzata M; Romano, David D; Herrero, Ana A; Guerriero, Maria Luisa ML; Birtwistle, Marc M; Quehenberger, Franz F; Hatzl, Stefan S; Kholodenko, Boris N BN; Segatto, Oreste O; Kolch, Walter W; Zebisch, Armin A

Publication Date: 2015

Variant appearance in text: BRAF: K499E

PubMed Link: 26065894

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: BRAF: K499E; rs180177037

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: BRAF: K499E

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s14.xlsx, sheet 1
• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

Bmc Medical Genetics

Santoro, Claudia C; Pacileo, Giuseppe G; Limongelli, Giuseppe G; Scianguetta, Saverio S; Giugliano, Teresa T; Piluso, Giulio G; Ragione, Fulvio Della FD; Cirillo, Mario M; Mirone, Giuseppe G; Perrotta, Silverio S

Publication Date: 2014-04-26

Variant appearance in text: BRAF: Lys499Glu

PubMed Link: 24767283

Variant Present in the following documents:

• Main text
• 1471-2350-15-44.pdf

View BVdb publication page

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Ablation of BRaf impairs neuronal differentiation in the postnatal hippocampus and cerebellum.

Plos One

Pfeiffer, Verena V; Götz, Rudolf R; Xiang, Chaomei C; Camarero, Guadelupe G; Braun, Attila A; Zhang, Yina Y; Blum, Robert R; Heinsen, Helmut H; Nieswandt, Bernhard B; Rapp, Ulf R UR

Publication Date: 2013

Variant appearance in text: BRAF: K499E

PubMed Link: 23505473

Variant Present in the following documents:

• Main text
• pone.0058259.pdf

View BVdb publication page

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Ras in cancer and developmental diseases.

Genes & Cancer

Fernández-Medarde, Alberto A; Santos, Eugenio E

Publication Date: 2011-03

Variant appearance in text: BRAF: K499E

PubMed Link: 21779504

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

American Journal Of Medical Genetics. Part A

Pierpont, Elizabeth I EI; Pierpont, Mary Ella ME; Mendelsohn, Nancy J NJ; Roberts, Amy E AE; Tworog-Dube, Erica E; Rauen, Katherine A KA; Seidenberg, Mark S MS

Publication Date: 2010-03

Variant appearance in text: BRAF: K499E

PubMed Link: 20186801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Human Molecular Genetics

Anastasaki, Corina C; Estep, Anne L AL; Marais, Richard R; Rauen, Katherine A KA; Patton, E Elizabeth EE

Publication Date: 2009-07-15

Variant appearance in text: BRAF: K499E

PubMed Link: 19376813

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Human Mutation

Sarkozy, Anna A; Carta, Claudio C; Moretti, Sonia S; Zampino, Giuseppe G; Digilio, Maria C MC; Pantaleoni, Francesca F; Scioletti, Anna Paola AP; Esposito, Giorgia G; Cordeddu, Viviana V; Lepri, Francesca F; Petrangeli, Valentina V; Dentici, Maria L ML; Mancini, Grazia M S GM; Selicorni, Angelo A; Rossi, Cesare C; Mazzanti, Laura L; Marino, Bruno B; Ferrero, Giovanni B GB; Silengo, Margherita Cirillo MC; Memo, Luigi L; Stanzial, Franco F; Faravelli, Francesca F; Stuppia, Liborio L; Puxeddu, Efisio E; Gelb, Bruce D BD; Dallapiccola, Bruno B; Tartaglia, Marco M

Publication Date: 2009-04

Variant appearance in text: BRAF: 1495A>G; Lys499Glu

PubMed Link: 19206169

Variant Present in the following documents:

• Main text

View BVdb publication page

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An unexpected new role of mutant Ras: perturbation of human embryonic development.

Journal Of Molecular Medicine (Berlin, Germany)

Kratz, Christian P CP; Niemeyer, Charlotte M CM; Zenker, Martin M

Publication Date: 2007-03

Variant appearance in text: BRAF: K499E

PubMed Link: 17211612

Variant Present in the following documents:

• Main text
• 109_2006_Article_135.pdf

View BVdb publication page

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