Publications:

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RET: 1777G>T; G593*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Bmc Medical Genetics

Luzón-Toro, Berta B; Espino-Paisán, Laura L; Fernández, Raquel Ma RM; Martín-Sánchez, Marta M; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2015-10-05

Variant appearance in text: RET: Gly593Ter

PubMed Link: 26437850

Variant Present in the following documents:

• Main text
• 12881_2015_Article_235.pdf

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Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

Plos One

Ruiz-Ferrer, Macarena M; Torroglosa, Ana A; Núñez-Torres, Rocío R; de Agustín, Juan Carlos JC; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2011

Variant appearance in text: RET: G593X

PubMed Link: 21858136

Variant Present in the following documents:

• Main text
• pone.0023475.pdf

View BVdb publication page