Publications:

Multimodal liquid biopsy for early monitoring and outcome prediction of chemotherapy in metastatic breast cancer.

Npj Breast Cancer

Bortolini Silveira, Amanda A; Bidard, François-Clément FC; Tanguy, Marie-Laure ML; Girard, Elodie E; Trédan, Olivier O; Dubot, Coraline C; Jacot, William W; Goncalves, Anthony A; Debled, Marc M; Levy, Christelle C; Ferrero, Jean-Marc JM; Jouannaud, Christelle C; Rios, Maria M; Mouret-Reynier, Marie-Ange MA; Dalenc, Florence F; Hego, Caroline C; Rampanou, Aurore A; Albaud, Benoit B; Baulande, Sylvain S; Berger, Frédérique F; Lemonnier, Jérôme J; Renault, Shufang S; Desmoulins, Isabelle I; Proudhon, Charlotte C; Pierga, Jean-Yves JY

Publication Date: 2021-09-09

Variant appearance in text: NF1: 240_243del

PubMed Link: 34504096

Variant Present in the following documents:

• 41523_2021_319_MOESM3_ESM.xlsx, sheet 1

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: NF1: 244_247del; Gln83*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Genes

Pinna, Valentina V; Daniele, Paola P; Calcagni, Giulio G; Mariniello, Lucio L; Criscione, Roberta R; Giardina, Chiara C; Lepri, Francesca Romana FR; Hozhabri, Hossein H; Alberico, Angela A; Cavone, Stefania S; Morella, Annunziata Tina AT; Mandile, Roberta R; Annunziata, Francesca F; Di Giosaffatte, Niccolò N; D'Asdia, Maria Cecilia MC; Versacci, Paolo P; Capolino, Rossella R; Strisciuglio, Pietro P; Giustini, Sandra S; Melis, Daniela D; Digilio, Maria Cristina MC; Tartaglia, Marco M; Marino, Bruno B; De Luca, Alessandro A

Publication Date: 2019-09-04

Variant appearance in text: NF1: 244_247delTCTC; Gln83Ter

PubMed Link: 31487937

Variant Present in the following documents:

• genes-10-00675-s001.xlsx, sheet 1

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Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: NF1: 244_247delTCTC

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 11

View BVdb publication page