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: 2516C>T; Ser839Phe

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: 2516C>T; Ser839Phe

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: 2516C>T; Ser839Phe

PubMed Link: 35297207

Variant Present in the following documents:

• CJP2-8-294-s001.pdf

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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: 2516C>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: S839F

PubMed Link: 28524158

Variant Present in the following documents:

• Main text
• bjc2017147a.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: S839F

PubMed Link: 26628006

Variant Present in the following documents:

• Main text

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Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour.

Journal Of Medical Genetics

Palculict, Timothy Blake TB; Ruteshouser, E Cristy EC; Fan, Yu Y; Wang, Wenyi W; Strong, Louise L; Huff, Vicki V

Publication Date: 2016-06

Variant appearance in text: DICER1: Ser839Phe

PubMed Link: 26566882

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: DICER1: S839F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: 2516C>T; Ser839Phe

PubMed Link: 24708902

Variant Present in the following documents:

• Main text
• 1752-1947-8-112.pdf

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DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Jama

Rio Frio, Thomas T; Bahubeshi, Amin A; Kanellopoulou, Chryssa C; Hamel, Nancy N; Niedziela, Marek M; Sabbaghian, Nelly N; Pouchet, Carly C; Gilbert, Lucy L; O'Brien, Paul K PK; Serfas, Kim K; Broderick, Peter P; Houlston, Richard S RS; Lesueur, Fabienne F; Bonora, Elena E; Muljo, Stefan S; Schimke, R Neil RN; Bouron-Dal Soglio, Dorothée D; Arseneau, Jocelyne J; Schultz, Kris Ann KA; Priest, John R JR; Nguyen, Van-Hung VH; Harach, H Rubén HR; Livingston, David M DM; Foulkes, William D WD; Tischkowitz, Marc M

Publication Date: 2011-01-05

Variant appearance in text: DICER1: 2516C>T

PubMed Link: 21205968

Variant Present in the following documents:

• Main text

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