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: 2040+1G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 2040+1G>T

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: 2040+1G>T

PubMed Link: 35297207

Variant Present in the following documents:

• CJP2-8-294-s001.pdf

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Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1.

Rhinology Online

Vasta, Lauren M LM; Nichols, Alison A; Harney, Laura A LA; Best, Ana F AF; Carr, Ann G AG; Harris, Anne K AK; Miettinen, Markku M; Schultz, Kris Ann P KAP; Kim, Hung Jeffrey HJ; Stewart, Douglas R DR

Publication Date: 2020

Variant appearance in text: DICER1: 2040+1G>T

PubMed Link: 34164613

Variant Present in the following documents:

• Main text

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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: 2040+1G>T

PubMed Link: 29762508

Variant Present in the following documents:

• Main text
• cancers-10-00143.pdf

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Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Human Genetics

Stewart, Douglas R DR; Messinger, Yoav Y; Williams, Gretchen M GM; Yang, Jiandong J; Field, Amanda A; Schultz, Kris Ann P KA; Harney, Laura A LA; Doros, Leslie A LA; Dehner, Louis P LP; Hill, D Ashley DA

Publication Date: 2014-11

Variant appearance in text: DICER1: 2040+1G>T

PubMed Link: 25118636

Variant Present in the following documents:

• Main text

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Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

Oncogene

Pugh, T J TJ; Yu, W W; Yang, J J; Field, A L AL; Ambrogio, L L; Carter, S L SL; Cibulskis, K K; Giannikopoulos, P P; Kiezun, A A; Kim, J J; McKenna, A A; Nickerson, E E; Getz, G G; Hoffher, S S; Messinger, Y H YH; Dehner, L P LP; Roberts, C W M CW; Rodriguez-Galindo, C C; Williams, G M GM; Rossi, C T CT; Meyerson, M M; Hill, D A DA

Publication Date: 2014-11-06

Variant appearance in text: DICER1: 2040+1G>T

PubMed Link: 24909177

Variant Present in the following documents:

• onc2014150x7.xls, sheet 1
• onc2014150a.pdf

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