Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: GRIN2A: 4227A>C; Ala1409=

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival.

Frontiers In Oncology

D'mello, Stacey Ann N SA; Flanagan, Jack U JU; Green, Taryn N TN; Leung, Euphemia Y EY; Askarian-Amiri, Marjan E ME; Joseph, Wayne R WR; McCrystal, Michael R MR; Isaacs, Richard J RJ; Shaw, James H F JH; Furneaux, Christopher E CE; During, Matthew J MJ; Finlay, Graeme J GJ; Baguley, Bruce C BC; Kalev-Zylinska, Maggie L ML

Publication Date: 2014-01-13

Variant appearance in text: GRIN2A: A1409A

PubMed Link: 24455489

Variant Present in the following documents:

• Main text
• fonc-03-00333.pdf

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