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: 310G>A; Gly104Arg

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine

Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R

Publication Date: 2022-05

Variant appearance in text: BRAF: 310G>A; Gly104Arg

PubMed Link: 35244186

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: BRAF: G104R

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 15

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Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma.

Nature Genetics

Palavalli, Lavanya H LH; Prickett, Todd D TD; Wunderlich, John R JR; Wei, Xiaomu X; Burrell, Allison S AS; Porter-Gill, Patricia P; Davis, Sean S; Wang, Chenwei C; Cronin, Julia C JC; Agrawal, Neena S NS; Lin, Jimmy C JC; Westbroek, Wendy W; Hoogstraten-Miller, Shelley S; Molinolo, Alfredo A AA; Fetsch, Patricia P; Filie, Armando C AC; O'Connell, Michael P MP; Banister, Carolyn E CE; Howard, Jason D JD; Buckhaults, Phillip P; Weeraratna, Ashani T AT; Brody, Lawrence C LC; Rosenberg, Steven A SA; Samuels, Yardena Y

Publication Date: 2009-05

Variant appearance in text: BRAF: G104R

PubMed Link: 19330028

Variant Present in the following documents:

• Main text

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