Publications:

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: NF1: A95V

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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: NF1: A95V

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 10

View BVdb publication page

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Exploring Tumor Immune Microenvironment and Its Associations With Molecular Characteristics in Melanoma.

Frontiers In Oncology

Wang, Jiangyuan J; Peng, Cong C; Dai, Wentao W; Chen, Xiang X; Meng, Jing J; Jiang, Taijiao T

Publication Date: 2022

Variant appearance in text: NF1: A95V

PubMed Link: 35530341

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Clonal hematopoiesis is associated with increased risk of progression of asymptomatic Waldenström macroglobulinemia.

Blood Advances

Tahri, Sabrin S; Mouhieddine, Tarek H TH; Redd, Robert R; Lampe, Luisa L; Nilsson, Katarina I KI; El-Khoury, Habib H; Su, Nang Kham NK; Nassar, Amin H AH; Adib, Elio E; Bindra, Govind G; Abou Alaiwi, Sarah S; Trippa, Lorenzo L; Steensma, David P DP; Castillo, Jorge J JJ; Treon, Steven P SP; Ghobrial, Irene M IM; Sperling, Adam S AS

Publication Date: 2022-04-12

Variant appearance in text: NF1: 284C>T

PubMed Link: 34847227

Variant Present in the following documents:

• advancesADV2021004926-suppl1.pdf

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: NF1: A95V

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Prognostic value of B cells in cutaneous melanoma.

Genome Medicine

Selitsky, Sara R SR; Mose, Lisle E LE; Smith, Christof C CC; Chai, Shengjie S; Hoadley, Katherine A KA; Dittmer, Dirk P DP; Moschos, Stergios J SJ; Parker, Joel S JS; Vincent, Benjamin G BG

Publication Date: 2019-05-28

Variant appearance in text: NF1: A95V

PubMed Link: 31138334

Variant Present in the following documents:

• 13073_2019_647_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: NF1: A95V

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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