Publications:

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

International Journal Of Molecular Sciences

Reurink, Janine J; Dockery, Adrian A; Oziębło, Dominika D; Farrar, G Jane GJ; Ołdak, Monika M; Ten Brink, Jacoline B JB; Bergen, Arthur A AA; Rinne, Tuula T; Yntema, Helger G HG; Pennings, Ronald J E RJE; van den Born, L Ingeborgh LI; Aben, Marco M; Oostrik, Jaap J; Venselaar, Hanka H; Plomp, Astrid S AS; Khan, M Imran MI; van Wijk, Erwin E; Cremers, Frans P M FPM; Roosing, Susanne S; Kremer, Hannie H

Publication Date: 2021-06-15

Variant appearance in text: USH2: 15286del

PubMed Link: 34203967

Variant Present in the following documents:

• Main text
• ijms-22-06419.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: USH2A: 15286delG; E5096fs*6

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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