Publications:

---

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: R1725Q; rs751273916

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

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: R1725Q

PubMed Link: 33158809

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer.

Pathology Oncology Research : Por

Kocsis-Deák, Barbara B; Árvai, Kristóf K; Balla, Bernadett B; Tóbiás, Bálint B; Kohánka, Andrea A; Járay, Balázs B; Horányi, János J; Podani, János J; Takács, István I; Putz, Zsuzsanna Z; Kósa, János J; Lakatos, Péter P

Publication Date: 2020-01

Variant appearance in text: DICER1: 5174G>A; Arg1725Gln

PubMed Link: 31758407

Variant Present in the following documents:

• 12253_2019_Article_772.pdf

View BVdb publication page

---

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: R1725Q

PubMed Link: 31296931

Variant Present in the following documents:

• Main text
• nihms-1531726.pdf

View BVdb publication page

---

The many faces of Dicer: the complexity of the mechanisms regulating Dicer gene expression and enzyme activities.

Nucleic Acids Research

Kurzynska-Kokorniak, Anna A; Koralewska, Natalia N; Pokornowska, Maria M; Urbanowicz, Anna A; Tworak, Aleksander A; Mickiewicz, Agnieszka A; Figlerowicz, Marek M

Publication Date: 2015-05-19

Variant appearance in text: DICER1: R1725Q

PubMed Link: 25883138

Variant Present in the following documents:

• supp_gkv328_nar-03037-survey-d-2014-File005.pdf

View BVdb publication page

---

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: 5174G>A

PubMed Link: 23547758

Variant Present in the following documents:

• Main text

View BVdb publication page

---

DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours.

Bmc Research Notes

de Boer, Carmela M CM; Eini, Ronak R; Gillis, Ad M AM; Stoop, Hans H; Looijenga, Leendert H J LH; White, Stefan J SJ

Publication Date: 2012-10-15

Variant appearance in text: DICER1: R1725Q

PubMed Link: 23068969

Variant Present in the following documents:

• Main text
• 1756-0500-5-569.pdf

View BVdb publication page

---