Publications:

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: MGLL: 319G>A; Val107Ile; rs140105585

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Nature Communications

Snuderl, Matija M; Kannan, Kasthuri K; Pfaff, Elke E; Wang, Shiyang S; Stafford, James M JM; Serrano, Jonathan J; Heguy, Adriana A; Ray, Karina K; Faustin, Arline A; Aminova, Olga O; Dolgalev, Igor I; Stapleton, Stacie L SL; Zagzag, David D; Chiriboga, Luis L; Gardner, Sharon L SL; Wisoff, Jeffrey H JH; Golfinos, John G JG; Capper, David D; Hovestadt, Volker V; Rosenblum, Marc K MK; Placantonakis, Dimitris G DG; LeBoeuf, Sarah E SE; Papagiannakopoulos, Thales Y TY; Chavez, Lukas L; Ahsan, Sama S; Eberhart, Charles G CG; Pfister, Stefan M SM; Jones, David T W DTW; Karajannis, Matthias A MA

Publication Date: 2018-07-20

Variant appearance in text: MGLL: V107I

PubMed Link: 30030436

Variant Present in the following documents:

• 41467_2018_5029_MOESM1_ESM.pdf

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Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.

Plos One

Smith, Douglas R DR; Stanley, Christine M CM; Foss, Theodore T; Boles, Richard G RG; McKernan, Kevin K

Publication Date: 2017

Variant appearance in text: MGLL: 319G>A; Val107Ile

PubMed Link: 29145497

Variant Present in the following documents:

• pone.0187926.s005.xlsx, sheet 1

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Genomic landscape of high-grade meningiomas.

Npj Genomic Medicine

Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R

Publication Date: 2017

Variant appearance in text: rs140105585

PubMed Link: 28713588

Variant Present in the following documents:

• 41525_2017_14_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs140105585

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page