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: ASP1713VAL

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics

Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A

Publication Date: 2020-11-18

Variant appearance in text: DICER1: 5138A>T; D1713V

PubMed Link: 33208384

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107385supp002.pdf
• jmedgenet-2020-107385.pdf

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A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics

Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A

Publication Date: 2022-02

Variant appearance in text: DICER1: 5138A>T; D1713V

PubMed Link: 33208384

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107385supp002.pdf
• jmedgenet-2020-107385.pdf

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: DICER1: 5138A>T; D1713V

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: D1713V

PubMed Link: 30178239

Variant Present in the following documents:

• Main text

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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: D1713V

PubMed Link: 28524158

Variant Present in the following documents:

• Main text
• bjc2017147a.pdf

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A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Nature Communications

Ferrari, Anthony A; Vincent-Salomon, Anne A; Pivot, Xavier X; Sertier, Anne-Sophie AS; Thomas, Emilie E; Tonon, Laurie L; Boyault, Sandrine S; Mulugeta, Eskeatnaf E; Treilleux, Isabelle I; MacGrogan, Gaëtan G; Arnould, Laurent L; Kielbassa, Janice J; Le Texier, Vincent V; Blanché, Hélène H; Deleuze, Jean-François JF; Jacquemier, Jocelyne J; Mathieu, Marie-Christine MC; Penault-Llorca, Frédérique F; Bibeau, Frédéric F; Mariani, Odette O; Mannina, Cécile C; Pierga, Jean-Yves JY; Trédan, Olivier O; Bachelot, Thomas T; Bonnefoi, Hervé H; Romieu, Gilles G; Fumoleau, Pierre P; Delaloge, Suzette S; Rios, Maria M; Ferrero, Jean-Marc JM; Tarpin, Carole C; Bouteille, Catherine C; Calvo, Fabien F; Gut, Ivo Glynne IG; Gut, Marta M; Martin, Sancha S; Nik-Zainal, Serena S; Stratton, Michael R MR; Pauporté, Iris I; Saintigny, Pierre P; Birnbaum, Daniel D; Viari, Alain A; Thomas, Gilles G

Publication Date: 2016-07-13

Variant appearance in text: DICER1: 5138A>T; Asp1713Val

PubMed Link: 27406316

Variant Present in the following documents:

• ncomms12222-s3.xlsx, sheet 1

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Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

F1000Research

Brenneman, Mark M; Field, Amanda A; Yang, Jiandong J; Williams, Gretchen G; Doros, Leslie L; Rossi, Christopher C; Schultz, Kris Ann KA; Rosenberg, Avi A; Ivanovich, Jennifer J; Turner, Joyce J; Gordish-Dressman, Heather H; Stewart, Douglas D; Yu, Weiying W; Harris, Anne A; Schoettler, Peter P; Goodfellow, Paul P; Dehner, Louis L; Messinger, Yoav Y; Hill, D Ashley DA

Publication Date: 2015

Variant appearance in text: DICER1: 5138A>T

PubMed Link: 26925222

Variant Present in the following documents:

• Main text
• f1000research-4-14447.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: D1713V

PubMed Link: 26628006

Variant Present in the following documents:

• Main text

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Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Journal Of Medical Genetics

Klein, Steven S; Lee, Hane H; Ghahremani, Shahnaz S; Kempert, Pamela P; Ischander, Mariam M; Teitell, Michael A MA; Nelson, Stanley F SF; Martinez-Agosto, Julian A JA

Publication Date: 2014-05

Variant appearance in text: DICER1: Asp1713Val

PubMed Link: 24676357

Variant Present in the following documents:

• Main text

View BVdb publication page

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