Publications:

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: SMARCA4: Leu530Pro

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6

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A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas.

Nature Communications

Rosenberg, Shai S; Simeonova, Iva I; Bielle, Franck F; Verreault, Maite M; Bance, Bertille B; Le Roux, Isabelle I; Daniau, Mailys M; Nadaradjane, Arun A; Gleize, Vincent V; Paris, Sophie S; Marie, Yannick Y; Giry, Marine M; Polivka, Marc M; Figarella-Branger, Dominique D; Aubriot-Lorton, Marie-Hélène MH; Villa, Chiara C; Vasiljevic, Alexandre A; Lechapt-Zalcman, Emmanuèle E; Kalamarides, Michel M; Sharif, Ariane A; Mokhtari, Karima K; Pagnotta, Stefano Maria SM; Iavarone, Antonio A; Lasorella, Anna A; Huillard, Emmanuelle E; Sanson, Marc M

Publication Date: 2018-06-18

Variant appearance in text: SMARCA4: L530P

PubMed Link: 29915258

Variant Present in the following documents:

• Main text

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