Publications:

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal Of Nephrology

Zacchia, Miriam M; Blanco, Francesca Del Vecchio FDV; Trepiccione, Francesco F; Blasio, Giancarlo G; Torella, Annalaura A; Melluso, Andrea A; Capolongo, Giovanna G; Pollastro, Rosa Maria RM; Piluso, Giulio G; Di Iorio, Valentina V; Simonelli, Francesca F; Viggiano, Davide D; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G

Publication Date: 2021-12

Variant appearance in text: PKD1: 4177C>T; Q1393X

PubMed Link: 33964006

Variant Present in the following documents:

• Main text

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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 4177C>T; Gln1393*

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

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Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports

Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA

Publication Date: 2017-08-29

Variant appearance in text: PKD1: Q1393X

PubMed Link: 28852190

Variant Present in the following documents:

• 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10

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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: PKD1: 4177C>T; Q1393*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page