Publications:

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: 1825G>T; Asp609Tyr

PubMed Link: 33630087

Variant Present in the following documents:

• jamanetwopen-e210112-s001.pdf

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Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Frontiers In Pediatrics

Marks, Lianna J LJ; Oberg, Jennifer A JA; Pendrick, Danielle D; Sireci, Anthony N AN; Glasser, Chana C; Coval, Carrie C; Zylber, Rebecca J RJ; Chung, Wendy K WK; Pang, Jiuhong J; Turk, Andrew T AT; Hsiao, Susan J SJ; Mansukhani, Mahesh M MM; Glade Bender, Julia L JL; Kung, Andrew L AL; Sulis, Maria Luisa ML

Publication Date: 2017

Variant appearance in text: DICER1: 1825G>T; D609Y

PubMed Link: 29312904

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Genome Medicine

Oberg, Jennifer A JA; Glade Bender, Julia L JL; Sulis, Maria Luisa ML; Pendrick, Danielle D; Sireci, Anthony N AN; Hsiao, Susan J SJ; Turk, Andrew T AT; Dela Cruz, Filemon S FS; Hibshoosh, Hanina H; Remotti, Helen H; Zylber, Rebecca J RJ; Pang, Jiuhong J; Diolaiti, Daniel D; Koval, Carrie C; Andrews, Stuart J SJ; Garvin, James H JH; Yamashiro, Darrell J DJ; Chung, Wendy K WK; Emerson, Stephen G SG; Nagy, Peter L PL; Mansukhani, Mahesh M MM; Kung, Andrew L AL

Publication Date: 2016-12-23

Variant appearance in text: DICER1: D609Y

PubMed Link: 28007021

Variant Present in the following documents:

• Main text
• 13073_2016_Article_389.pdf
• 13073_2016_389_MOESM5_ESM.xlsx, sheet 1

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: DICER1: D609Y; rs114947750

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs114947750

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page