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: BRAF: 1741A>C; Asn581His

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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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: BRAF: N581H

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: BRAF: N581H

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 8

View BVdb publication page

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Clinical associations and genetic interactions of oncogenic BRAF alleles.

Peerj

Wagner, Sebastian A SA

Publication Date: 2022

Variant appearance in text: BRAF: N581H

PubMed Link: 36275468

Variant Present in the following documents:

• peerj-10-14126.pdf

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: BRAF: N581H

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 26

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: BRAF: 1741A>C; N581H

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

The New England Journal Of Medicine

Sparks, Teresa N TN; Lianoglou, Billie R BR; Adami, Rebecca R RR; Pluym, Ilina D ID; Holliman, Kerry K; Duffy, Jennifer J; Downum, Sarah L SL; Patel, Sachi S; Faubel, Amanda A; Boe, Nina M NM; Field, Nancy T NT; Murphy, Aisling A; Laurent, Louise C LC; Jolley, Jennifer J; Uy, Cherry C; Slavotinek, Anne M AM; Devine, Patrick P; Hodoglugil, Ugur U; Van Ziffle, Jessica J; Sanders, Stephan J SJ; MacKenzie, Tippi C TC; Norton, Mary E ME; , ; ,

Publication Date: 2020-10-29

Variant appearance in text: BRAF: Asn581His

PubMed Link: 33027564

Variant Present in the following documents:

• Main text

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: N581H

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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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: BRAF: 1741A>C

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

Esmo Open

De Falco, Vincenzo V; Poliero, Luca L; Vitello, Pietro Paolo PP; Ciardiello, Davide D; Vitale, Pasquale P; Zanaletti, Nicoletta N; Giunta, Emilio Francesco EF; Terminiello, Marinella M; Caputo, Vincenza V; Carlino, Francesca F; Di Liello, Raimondo R; Ventriglia, Anna A; Famiglietti, Vincenzo V; Martinelli, Erika E; Morgillo, Floriana F; Orditura, Michele M; De Vita, Ferdinando F; Fasano, Morena M; Napolitano, Stefania S; Martini, Giulia G; Della Corte, Carminia Maria CM; Franco, Renato R; Altucci, Lucia L; Ciardiello, Fortunato F; Troiani, Teresa T

Publication Date: 2020-03

Variant appearance in text: BRAF: N581H

PubMed Link: 32234730

Variant Present in the following documents:

• esmoopen-2020-000675supp003.pdf

View BVdb publication page

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Targeting BRD/BET proteins inhibits adaptive kinome upregulation and enhances the effects of BRAF/MEK inhibitors in melanoma.

British Journal Of Cancer

Tiago, Manoela M; Capparelli, Claudia C; Erkes, Dan A DA; Purwin, Timothy J TJ; Heilman, Shea A SA; Berger, Adam C AC; Davies, Michael A MA; Aplin, Andrew E AE

Publication Date: 2020-03

Variant appearance in text: BRAF: N581H

PubMed Link: 31932756

Variant Present in the following documents:

• 41416_2019_724_MOESM1_ESM.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: BRAF: Asn581His

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Synergy from gene expression and network mining (SynGeNet) method predicts synergistic drug combinations for diverse melanoma genomic subtypes.

Npj Systems Biology And Applications

Regan-Fendt, Kelly E KE; Xu, Jielin J; DiVincenzo, Mallory M; Duggan, Megan C MC; Shakya, Reena R; Na, Ryejung R; Carson, William E WE; Payne, Philip R O PRO; Li, Fuhai F

Publication Date: 2019

Variant appearance in text: BRAF: N581H

PubMed Link: 30820351

Variant Present in the following documents:

• Main text
• 41540_2019_Article_85.pdf

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: BRAF: N581H

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

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Oncogenic BRAF mutations and p16 expression in melanocytic nevi and melanoma in the Polish population.

Postepy Dermatologii I Alergologii

Mackiewicz-Wysocka, Małgorzata M; Czerwińska, Patrycja P; Filas, Violetta V; Bogajewska, Elżbieta E; Kubicka, Agata A; Przybyła, Anna A; Dondajewska, Ewelina E; Kolenda, Tomasz T; Marszałek, Andrzej A; Mackiewicz, Andrzej A

Publication Date: 2017-10

Variant appearance in text: BRAF: N581H

PubMed Link: 29507566

Variant Present in the following documents:

• Main text
• PDIA-34-30911.pdf

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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: BRAF: N581H; rs180177040

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

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: rs180177040

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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: BRAF: N581H; rs180177040

PubMed Link: 27478437

Variant Present in the following documents:

• Main text

View BVdb publication page

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RASopathy Gene Mutations in Melanoma.

The Journal Of Investigative Dermatology

Halaban, Ruth R; Krauthammer, Michael M

Publication Date: 2016-09

Variant appearance in text: BRAF: N581H

PubMed Link: 27236105

Variant Present in the following documents:

• Main text

View BVdb publication page

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