Publications:

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: NF1: 3883A>G; T1295A

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.

Medicine

Moore, Assaf A; Bar, Yael Y; Maurice-Dror, Corinne C; Finkel, Inbar I; Goldvaser, Hadar H; Dudnik, Elizabeth E; Goldstein, Daniel A DA; Gordon, Noa N; Billan, Salem S; Gutfeld, Orit O; Wolf, Ido I; Popovtzer, Aron A

Publication Date: 2021-06-25

Variant appearance in text: NF1: T1295A

PubMed Link: 34160418

Variant Present in the following documents:

• Main text
• medi-100-e26388.pdf

View BVdb publication page

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Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Molecular Genetics & Genomic Medicine

Witkowski, Leora L; Dillon, Mitchell W MW; Murphy, Elissa E; S Lebo, Matthew M; Mason-Suares, Heather H

Publication Date: 2020-04

Variant appearance in text: NF1: 3883A>G; Thr1295Ala

PubMed Link: 32107864

Variant Present in the following documents:

• MGG3-8-e1180-s001.pdf

View BVdb publication page

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: NF1: 3883A>G; Thr1295Ala; rs143836226

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: NF1: 3883A>G; T1295A

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
• 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs143836226

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: NF1: T1295A

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of pediatric myelodysplastic syndromes.

Nature Communications

Schwartz, Jason R JR; Ma, Jing J; Lamprecht, Tamara T; Walsh, Michael M; Wang, Shuoguo S; Bryant, Victoria V; Song, Guangchun G; Wu, Gang G; Easton, John J; Kesserwan, Chimene C; Nichols, Kim E KE; Mullighan, Charles G CG; Ribeiro, Raul C RC; Klco, Jeffery M JM

Publication Date: 2017-11-16

Variant appearance in text: NF1: T1295A

PubMed Link: 29146900

Variant Present in the following documents:

• 41467_2017_1590_MOESM7_ESM.xlsx, sheet 1

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: NF1: 3883A>G; Thr1295Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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