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: PRRT2: 932G>A; Arg311Gln

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Plos One

Huguet, Guillaume G; Nava, Caroline C; Lemière, Nathalie N; Patin, Etienne E; Laval, Guillaume G; Ey, Elodie E; Brice, Alexis A; Leboyer, Marion M; Szepetowski, Pierre P; Gillberg, Christopher C; Depienne, Christel C; Delorme, Richard R; Bourgeron, Thomas T

Publication Date: 2014

Variant appearance in text: PRRT2: R311Q

PubMed Link: 24594579

Variant Present in the following documents:

• Main text
• pone.0088600.pdf

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