Publications:

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

Hgg Advances

Zhong, Guojie G; Ahimaz, Priyanka P; Edwards, Nicole A NA; Hagen, Jacob J JJ; Faure, Christophe C; Lu, Qiao Q; Kingma, Paul P; Middlesworth, William W; Khlevner, Julie J; El Fiky, Mahmoud M; Schindel, David D; Fialkowski, Elizabeth E; Kashyap, Adhish A; Forlenza, Sophia S; Kenny, Alan P AP; Zorn, Aaron M AM; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-07-14

Variant appearance in text: MUC16: 2508C>A; Ser836Arg

PubMed Link: 35519826

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.

Cellular And Molecular Life Sciences : Cmls

Keup, Corinna C; Benyaa, Karim K; Hauch, Siegfried S; Sprenger-Haussels, Markus M; Tewes, Mitra M; Mach, Pawel P; Bittner, Ann-Kathrin AK; Kimmig, Rainer R; Hahn, Peter P; Kasimir-Bauer, Sabine S

Publication Date: 2020-02

Variant appearance in text: MUC16: S836R

PubMed Link: 31254045

Variant Present in the following documents:

• Main text
• 18_2019_Article_3189.pdf

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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: MUC16: 2508C>A; S836R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page