Publications:

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: PTEN: S113R

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: S113R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications

Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M

Publication Date: 2017-11-06

Variant appearance in text: PTEN: S113R

PubMed Link: 29109393

Variant Present in the following documents:

• 41467_2017_965_MOESM7_ESM.xlsx, sheet 5
• 41467_2017_965_MOESM7_ESM.xlsx, sheet 6
• 41467_2017_965_MOESM7_ESM.xlsx, sheet 1

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: S113R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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