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: NF1: 625C>T; Gln209Ter

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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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: NF1: Gln209Ter

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Acta Neuropathologica

Lucas, Calixto-Hope G CG; Sloan, Emily A EA; Gupta, Rohit R; Wu, Jasper J; Pratt, Drew D; Vasudevan, Harish N HN; Ravindranathan, Ajay A; Barreto, Jairo J; Williams, Erik A EA; Shai, Anny A; Whipple, Nicholas S NS; Bruggers, Carol S CS; Maher, Ossama O; Nabors, Burt B; Rodriguez, Michael M; Samuel, David D; Brown, Melandee M; Carmichael, Jason J; Lu, Rufei R; Mirchia, Kanish K; Sullivan, Daniel V DV; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Banerjee, Anuradha A; Mueller, Sabine S; Gupta, Nalin N; Hervey-Jumper, Shawn L SL; Oberheim Bush, Nancy Ann NA; Daras, Mariza M; Taylor, Jennie W JW; Butowski, Nicholas A NA; de Groot, John J; Clarke, Jennifer L JL; Raleigh, David R DR; Costello, Joseph F JF; Phillips, Joanna J JJ; Reddy, Alyssa T AT; Chang, Susan M SM; Berger, Mitchel S MS; Solomon, David A DA

Publication Date: 2022-10

Variant appearance in text: NF1: 625C>T; Q209*; rs786203448

PubMed Link: 35945463

Variant Present in the following documents:

• 401_2022_2478_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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The Genomic Landscape of Early-Stage Ovarian High-Grade Serous Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Cheng, Zhao Z; Mirza, Hasan H; Ennis, Darren P DP; Smith, Philip P; Morrill Gavarró, Lena L; Sokota, Chishimba C; Giannone, Gaia G; Goranova, Theodora T; Bradley, Thomas T; Piskorz, Anna A; Lockley, Michelle M; , ; Kaur, Baljeet B; Singh, Naveena N; Tookman, Laura A LA; Krell, Jonathan J; McDermott, Jacqueline J; Macintyre, Geoffrey G; Markowetz, Florian F; Brenton, James D JD; McNeish, Iain A IA

Publication Date: 2022-07-01

Variant appearance in text: NF1: 625C>T; Q209*

PubMed Link: 35398881

Variant Present in the following documents:

• ccr-21-1643_supplementary_table_2_supp2.xlsx, sheet 2

View BVdb publication page

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Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.

Current Issues In Molecular Biology

Togi, Sumihito S; Ura, Hiroki H; Niida, Yo Y

Publication Date: 2021-07-23

Variant appearance in text: NF1: 625C>T; Gln209Ter

PubMed Link: 34449562

Variant Present in the following documents:

• Main text
• cimb-43-00057.pdf

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: NF1: Q209*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NF1: Q209*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: 625C>T; Q209*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas.

Cancer Medicine

Tlemsani, Camille C; Pécuchet, Nicolas N; Gruber, Aurelia A; Laurendeau, Ingrid I; Danel, Claire C; Riquet, Marc M; Le Pimpec-Barthes, Françoise F; Fabre, Elizabeth E; Mansuet-Lupo, Audrey A; Damotte, Diane D; Alifano, Marco M; Luscan, Armelle A; Rousseau, Benoit B; Vidaud, Dominique D; Varin, Jennifer J; Parfait, Beatrice B; Bieche, Ivan I; Leroy, Karen K; Laurent-Puig, Pierre P; Terris, Benoit B; Blons, Helene H; Vidaud, Michel M; Pasmant, Eric E

Publication Date: 2019-08

Variant appearance in text: NF1: 625C>T; Gln209*

PubMed Link: 31199580

Variant Present in the following documents:

• CAM4-8-4330-s001.pdf

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: Gln209Ter

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.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: 625C>T; Gln209Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Plos One

Polla, Daniel L DL; Cardoso, Maria T O MT; Silva, Mayara C B MC; Cardoso, Isabela C C IC; Medina, Cristina T N CT; Araujo, Rosenelle R; Fernandes, Camila C CC; Reis, Alessandra M M AM; de Andrade, Rosangela V RV; Pereira, Rinaldo W RW; Pogue, Robert R

Publication Date: 2015

Variant appearance in text: NF1: 625C>T; Gln209Ter

PubMed Link: 26380986

Variant Present in the following documents:

• Main text
• pone.0138314.s002.xls, sheet 1
• pone.0138314.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: NF1: Q209*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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