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: DICER1: 2062C>T; Arg688Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: DICER1: R688X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research

Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD

Publication Date: 2022-11

Variant appearance in text: DICER1: 2062C>T; Arg688Ter

PubMed Link: 35986592

Variant Present in the following documents:

• CJP2-8-579.pdf

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PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research

Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD

Publication Date: 2022-05

Variant appearance in text: DICER1: 2062C>T; Arg688Ter

PubMed Link: 35297207

Variant Present in the following documents:

• CJP2-8-294-s001.pdf

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A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr

Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC

Publication Date: 2020-07-31

Variant appearance in text: DICER1: 2062C>T; R688*

PubMed Link: 32736587

Variant Present in the following documents:

• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 4

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Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research

Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG

Publication Date: 2020-06

Variant appearance in text: DICER1: R688X

PubMed Link: 32661091

Variant Present in the following documents:

• supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1

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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: DICER1: 2062C>T; R688*

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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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: DICER1: 2062C>T; Arg688*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Nature Communications

Vedanayagam, Jeffrey J; Chatila, Walid K WK; Aksoy, Bülent Arman BA; Majumdar, Sonali S; Skanderup, Anders Jacobsen AJ; Demir, Emek E; Schultz, Nikolaus N; Sander, Chris C; Lai, Eric C EC

Publication Date: 2019-08-15

Variant appearance in text: DICER1: R688*

PubMed Link: 31417090

Variant Present in the following documents:

• 41467_2019_11610_MOESM4_ESM.xlsx, sheet 1

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DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Cancers

Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT

Publication Date: 2018-05-15

Variant appearance in text: DICER1: 2062C>T

PubMed Link: 29762508

Variant Present in the following documents:

• Main text
• cancers-10-00143.pdf

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Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

British Journal Of Cancer

de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD

Publication Date: 2017-06-06

Variant appearance in text: DICER1: R688*

PubMed Link: 28524158

Variant Present in the following documents:

• Main text
• bjc2017147a.pdf

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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Jama Oncology

Parsons, D Williams DW; Roy, Angshumoy A; Yang, Yaping Y; Wang, Tao T; Scollon, Sarah S; Bergstrom, Katie K; Kerstein, Robin A RA; Gutierrez, Stephanie S; Petersen, Andrea K AK; Bavle, Abhishek A; Lin, Frank Y FY; López-Terrada, Dolores H DH; Monzon, Federico A FA; Hicks, M John MJ; Eldin, Karen W KW; Quintanilla, Norma M NM; Adesina, Adekunle M AM; Mohila, Carrie A CA; Whitehead, William W; Jea, Andrew A; Vasudevan, Sanjeev A SA; Nuchtern, Jed G JG; Ramamurthy, Uma U; McGuire, Amy L AL; Hilsenbeck, Susan G SG; Reid, Jeffrey G JG; Muzny, Donna M DM; Wheeler, David A DA; Berg, Stacey L SL; Chintagumpala, Murali M MM; Eng, Christine M CM; Gibbs, Richard A RA; Plon, Sharon E SE

Publication Date: 2016-05-01

Variant appearance in text: DICER1: 2062C>T; R688X

PubMed Link: 26822237

Variant Present in the following documents:

• Main text

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