Publications:

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Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Blood Advances

Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK

Publication Date: 2021-10-26

Variant appearance in text: DICER1: 3422C>T; Ser1141Phe; rs780815020

PubMed Link: 34535012

Variant Present in the following documents:

• advancesADV2021004562-suppl2.xlsx, sheet 9

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: 3422C>T; Ser1141Phe

PubMed Link: 33630087

Variant Present in the following documents:

• jamanetwopen-e210112-s001.pdf

View BVdb publication page

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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers In Endocrinology

Martínez de LaPiscina, Idoia I; Hernández-Ramírez, Laura C LC; Portillo, Nancy N; Gómez-Gila, Ana L AL; Urrutia, Inés I; Martínez-Salazar, Rosa R; García-Castaño, Alejandro A; Aguayo, Aníbal A; Rica, Itxaso I; Gaztambide, Sonia S; Faucz, Fabio R FR; Keil, Margaret F MF; Lodish, Maya B MB; Quezado, Martha M; Pankratz, Nathan N; Chittiboina, Prashant P; Lane, John J; Kay, Denise M DM; Mills, James L JL; Castaño, Luis L; Stratakis, Constantine A CA

Publication Date: 2020

Variant appearance in text: DICER1: 3422C>T; S1141F; rs780815020

PubMed Link: 32714280

Variant Present in the following documents:

• Main text
• fendo-11-00433.pdf

View BVdb publication page

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: DICER1: 3422C>T; Ser1141Phe

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.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: S1141F

PubMed Link: 31417090

Variant Present in the following documents:

• 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF

Publication Date: 2016-07-10

Variant appearance in text: DICER1: 3422C>T; S1141F; rs780815020

PubMed Link: 27161972

Variant Present in the following documents:

• supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1

View BVdb publication page

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