Publications:

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Genome Medicine

Stoltze, Ulrik Kristoffer UK; Hagen, Christian Munch CM; van Overeem Hansen, Thomas T; Byrjalsen, Anna A; Gerdes, Anne-Marie AM; Yakimov, Victor V; Rasmussen, Simon S; Bækvad-Hansen, Marie M; Hougaard, David Michael DM; Schmiegelow, Kjeld K; Hjalgrim, Henrik H; Wadt, Karin K; Bybjerg-Grauholm, Jonas J

Publication Date: 2023-03-14

Variant appearance in text: RB1: 409_412delGAAA; Glu137Leufs*15

PubMed Link: 36918911

Variant Present in the following documents:

• 13073_2023_1167_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: RB1: 409_412delGAAA; Glu137Leufs*15

PubMed Link: 33332384

Variant Present in the following documents:

• Main text
• pgen.1009231.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: RB1: 406_409delAAAG

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page