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: 2247C>A; Tyr749Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.

Pediatric Nephrology (Berlin, Germany)

Khan, Nicholas E NE; Ling, Alexander A; Raske, Molly E ME; Harney, Laura A LA; Carr, Ann G AG; Field, Amanda A; Harris, Anne K AK; Williams, Gretchen M GM; Dehner, Louis P LP; Messinger, Yoav H YH; Hill, D Ashley DA; Schultz, Kris Ann P KAP; Stewart, Douglas R DR

Publication Date: 2018-12

Variant appearance in text: DICER1: 2247C>A; Y749X

PubMed Link: 30178239

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: 2247C>A

PubMed Link: 29762508

Variant Present in the following documents:

• Main text
• cancers-10-00143.pdf

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Dysregulation of microRNA biogenesis machinery in cancer.

Critical Reviews In Biochemistry And Molecular Biology

Hata, Akiko A; Kashima, Risa R

Publication Date: 2016

Variant appearance in text: Dicer: Y749*

PubMed Link: 26628006

Variant Present in the following documents:

• Main text

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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: N/A

PubMed Link: 25118636

Variant Present in the following documents:

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A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Journal Of Medical Case Reports

Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T

Publication Date: 2014-04-03

Variant appearance in text: DICER1: 2247C>A; Tyr749*

PubMed Link: 24708902

Variant Present in the following documents:

• Main text
• 1752-1947-8-112.pdf

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DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

Pediatric Blood & Cancer

Doros, Leslie L; Yang, Jiandong J; Dehner, Louis L; Rossi, Christopher T CT; Skiver, Kerry K; Jarzembowski, Jason A JA; Messinger, Yoav Y; Schultz, Kris Ann KA; Williams, Gretchen G; André, Nicolas N; Hill, D Ashley DA

Publication Date: 2012-09

Variant appearance in text: DICER1: 2247C>A; Y749X

PubMed Link: 22180160

Variant Present in the following documents:

• Main text

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