Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: TP53: 716del; Asn239fs
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma.
Nature Communications
Escudero, Laura L; Llort, Anna A; Arias, Alexandra A; Diaz-Navarro, Ander A; Martínez-Ricarte, Francisco F; Rubio-Perez, Carlota C; Mayor, Regina R; Caratù, Ginevra G; Martínez-Sáez, Elena E; Vázquez-Méndez, Élida É; Lesende-Rodríguez, Iván I; Hladun, Raquel R; Gros, Luis L; Ramón Y Cajal, Santiago S; Poca, Maria A MA; Puente, Xose S XS; Sahuquillo, Juan J; Gallego, Soledad S; Seoane, Joan J
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08
Variant appearance in text: TP53: 716delA; Asn239Thrfs