Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: DICER1: Q1580H; rs369465519

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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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: 4740G>T; Gln1580His

PubMed Link: 33630087

Variant Present in the following documents:

• jamanetwopen-e210112-s001.pdf

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Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.

Cancer Genetics

Vasta, Lauren M LM; McMaster, Mary L ML; Harney, Laura A LA; Ling, Alexander A; Kim, Jung J; Harris, Anne K AK; Carr, Ann G AG; Damrauer, Scott M SM; Rader, Daniel J DJ; Kember, Rachel L RL; Kanetsky, Peter A PA; Nathanson, Katherine L KL; Pyle, Louise C LC; Greene, Mark H MH; Schultz, Kris Ann KA; Stewart, Douglas R DR; ,

Publication Date: 2020-10

Variant appearance in text: DICER1: 4740G>T; Q1580H

PubMed Link: 33158809

Variant Present in the following documents:

• Main text

View BVdb publication page

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Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Nakano, Yoshiko Y; Hasegawa, Daiichiro D; Stewart, Douglas R DR; Schultz, Kris Ann P KAP; Harris, Anne K AK; Hirato, Junko J; Uemura, Suguru S; Tamura, Akihiro A; Saito, Atsuro A; Kawamura, Atsufumi A; Yoshida, Makiko M; Yamasaki, Kai K; Yamashita, Satoshi S; Ushijima, Toshikazu T; Kosaka, Yoshiyuki Y; Ichimura, Koichi K; Dehner, Louis P LP; Hill, D Ashley DA

Publication Date: 2019-12

Variant appearance in text: DICER1: Q1580H

PubMed Link: 31296931

Variant Present in the following documents:

• Main text
• nihms-1531726.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: 4740G>T

PubMed Link: 29762508

Variant Present in the following documents:

• Main text
• cancers-10-00143.pdf

View BVdb publication page

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The prevalence of DICER1 pathogenic variation in population databases.

International Journal Of Cancer

Kim, Jung J; Field, Amanda A; Schultz, Kris Ann P KAP; Hill, D Ashley DA; Stewart, Douglas R DR

Publication Date: 2017-11-15

Variant appearance in text: N/A

PubMed Link: 28748527

Variant Present in the following documents:

View BVdb publication page

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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: 4740G>T; Gln1580His

PubMed Link: 24708902

Variant Present in the following documents:

• Main text
• 1752-1947-8-112.pdf

View BVdb publication page

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DICER1 hotspot mutations in non-epithelial gonadal tumours.

British Journal Of Cancer

Witkowski, L L; Mattina, J J; Schönberger, S S; Murray, M J MJ; Choong, C S CS; Huntsman, D G DG; Reis-Filho, J S JS; McCluggage, W G WG; Nicholson, J C JC; Coleman, N N; Calaminus, G G; Schneider, D T DT; Arseneau, J J; Stewart, C J R CJ; Foulkes, W D WD

Publication Date: 2013-11-12

Variant appearance in text: N/A

PubMed Link: 24136150

Variant Present in the following documents:

View BVdb publication page

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Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

Bmc Research Notes

Sabbaghian, Nelly N; Bahubeshi, Amin A; Shuen, Andrew Y AY; Kanetsky, Peter A PA; Tischkowitz, Marc D MD; Nathanson, Katherine L KL; Foulkes, William D WD

Publication Date: 2013-04-01

Variant appearance in text: DICER1: 4740G>T

PubMed Link: 23547758

Variant Present in the following documents:

• Main text
• 1756-0500-6-127.pdf

View BVdb publication page

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