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: BRAF: 325T>A; Phe109Ile

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Clinical associations and genetic interactions of oncogenic BRAF alleles.

Peerj

Wagner, Sebastian A SA

Publication Date: 2022

Variant appearance in text: BRAF: F109I

PubMed Link: 36275468

Variant Present in the following documents:

• peerj-10-14126.pdf

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: BRAF: F109I

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Atypical, Non-V600 BRAF Mutations as a Potential Mechanism of Resistance to EGFR Inhibition in Metastatic Colorectal Cancer.

Jco Precision Oncology

Johnson, Benny B; Loree, Jonathan M JM; Jacome, Alexandre A AA; Mendis, Shehara S; Syed, Muddassir M; Morris Ii, Van K VK; Parseghian, Christine M CM; Dasari, Arvind A; Pant, Shubham S; Raymond, Victoria M VM; Vilar, Eduardo E; Overman, Michael M; Kee, Bryan B; Eng, Cathy C; Raghav, Kanwal K; Kopetz, Scott S

Publication Date: 2019

Variant appearance in text: BRAF: F109I

PubMed Link: 32914034

Variant Present in the following documents:

• Main text

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