Publications:

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: VWF: 1A>G

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

Frequency and signature of somatic variants in 1461 human brain exomes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wei, Wei W; Keogh, Michael J MJ; Aryaman, Juvid J; Golder, Zoe Z; Kullar, Peter J PJ; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Sarraj, Safa Al SA; Morris, Chris M CM; Ansorge, Olaf O; Jones, Nick S NS; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2019-04

Variant appearance in text: VWF: M1V

PubMed Link: 30214067

Variant Present in the following documents:

• 41436_2018_Article_274.pdf

View BVdb publication page

The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth

Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,

Publication Date: 2013-03

Variant appearance in text: VWF: 1A>G; Met1Val

PubMed Link: 23311757

Variant Present in the following documents:

• Main text

View BVdb publication page