Publications:

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: NF1: 61_4430del

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

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Beta-blockers disrupt mitochondrial bioenergetics and increase radiotherapy efficacy independently of beta-adrenergic receptors in medulloblastoma.

Ebiomedicine

Rossi, Maïlys M; Talbot, Julie J; Piris, Patricia P; Grand, Marion Le ML; Montero, Marie-Pierre MP; Matteudi, Mélanie M; Agavnian-Couquiaud, Emilie E; Appay, Romain R; Keime, Céline C; Williamson, Daniel D; Buric, Duje D; Bourgarel, Véronique V; Padovani, Laetitia L; Clifford, Steven C SC; Ayrault, Olivier O; Pasquier, Eddy E; André, Nicolas N; Carré, Manon M

Publication Date: 2022-08

Variant appearance in text: NF1: 61_4835del

PubMed Link: 35816899

Variant Present in the following documents:

• mmc4.pdf

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Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids

Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D

Publication Date: 2022-06-14

Variant appearance in text: NF1: Leu21_Met68del

PubMed Link: 35433111

Variant Present in the following documents:

• mmc1.pdf

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: NF1: 61_5812del

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page