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: 1870C>T; Arg624Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Jama Network Open

Mirshahi, Uyenlinh L UL; Kim, Jung J; Best, Ana F AF; Chen, Zongming E ZE; Hu, Ying Y; Haley, Jeremy S JS; Golden, Alicia A; Stahl, Richard R; Manickam, Kandamurugu K; Carr, Ann G AG; Harney, Laura A LA; Field, Amanda A; Hatton, Jessica J; Schultz, Kris Ann P KAP; Bauer, Andrew J AJ; Hill, D Ashley DA; Rosenberg, Philip S PS; Murray, Michael F MF; Carey, David J DJ; Stewart, Douglas R DR

Publication Date: 2021-02-01

Variant appearance in text: DICER1: Arg624Ter

PubMed Link: 33630087

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1870C>T; R624*

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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A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

European Journal Of Cancer (Oxford, England : 1990)

George, Sally L SL; Izquierdo, Elisa E; Campbell, James J; Koutroumanidou, Eleni E; Proszek, Paula P; Jamal, Sabri S; Hughes, Deborah D; Yuan, Lina L; Marshall, Lynley V LV; Carceller, Fernando F; Chisholm, Julia C JC; Vaidya, Sucheta S; Mandeville, Henry H; Angelini, Paola P; Wasti, Ajla A; Bexelius, Tomas T; Thway, Khin K; Gatz, Susanne A SA; Clarke, Matthew M; Al-Lazikani, Bissan B; Barone, Giuseppe G; Anderson, John J; Tweddle, Deborah A DA; Gonzalez, David D; Walker, Brian A BA; Barton, Jack J; Depani, Sarita S; Eze, Jessica J; Ahmed, Saira W SW; Moreno, Lucas L; Pearson, Andrew A; Shipley, Janet J; Jones, Chris C; Hargrave, Darren D; Jacques, Thomas S TS; Hubank, Michael M; Chesler, Louis L

Publication Date: 2019-11

Variant appearance in text: DICER1: 1870C>T; Arg624Ter

PubMed Link: 31543384

Variant Present in the following documents:

• mmc3.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: 1870C>T; Arg624*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

View BVdb publication page

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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: R624*

PubMed Link: 31417090

Variant Present in the following documents:

• 41467_2019_11610_MOESM4_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: 1870C>T; R624X

PubMed Link: 30178239

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: DICER1: 1870C>T; R624*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s020.xlsx, sheet 1

View BVdb publication page

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Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.

The Journal Of Clinical Endocrinology And Metabolism

Khan, Nicholas E NE; Bauer, Andrew J AJ; Schultz, Kris Ann P KAP; Doros, Leslie L; Decastro, Rosamma M RM; Ling, Alexander A; Lodish, Maya B MB; Harney, Laura A LA; Kase, Ron G RG; Carr, Ann G AG; Rossi, Christopher T CT; Field, Amanda A; Harris, Anne K AK; Williams, Gretchen M GM; Dehner, Louis P LP; Messinger, Yoav H YH; Hill, D Ashley DA; Stewart, Douglas R DR

Publication Date: 2017-05-01

Variant appearance in text: DICER1: 1870C>T

PubMed Link: 28323992

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: DICER1: 1870C>T; Arg624*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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