Publications:

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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: W1997*

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 10

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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: 5991G>A; W1997*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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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: NF1: 5991G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Genomic and Transcriptomic Characteristics According to Size of Papillary Thyroid Microcarcinoma.

Cancers

Song, Young Shin YS; Kang, Byung-Hee BH; Lee, Seungbok S; Yoo, Seong-Keun SK; Choi, Young Sik YS; Park, Jungsun J; Park, Dong Yoon DY; Lee, Kyu Eun KE; Seo, Jeong-Sun JS; Park, Young Joo YJ

Publication Date: 2020-05-25

Variant appearance in text: NF1: W1997*

PubMed Link: 32466217

Variant Present in the following documents:

• Main text
• cancers-12-01345.pdf

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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: NF1: 5991G>A; W1997*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: NF1: 5991G>A; Trp1997*

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5
• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

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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: 5991G>A; W1997*

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

The Journal Of Clinical Endocrinology And Metabolism

Welander, Jenny J; Andreasson, Adam A; Juhlin, C Christofer CC; Wiseman, Roger W RW; Bäckdahl, Martin M; Höög, Anders A; Larsson, Catharina C; Gimm, Oliver O; Söderkvist, Peter P

Publication Date: 2014-07

Variant appearance in text: NF1: 5991G>A; Trp1997X

PubMed Link: 24694336

Variant Present in the following documents:

• Main text

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