Publications:

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: NF1: 3989A>C

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Molecular Metabolism

Montagne, Louise L; Derhourhi, Mehdi M; Piton, Amélie A; Toussaint, Bénédicte B; Durand, Emmanuelle E; Vaillant, Emmanuel E; Thuillier, Dorothée D; Gaget, Stefan S; De Graeve, Franck F; Rabearivelo, Iandry I; Lansiaux, Amélie A; Lenne, Bruno B; Sukno, Sylvie S; Desailloud, Rachel R; Cnop, Miriam M; Nicolescu, Ramona R; Cohen, Lior L; Zagury, Jean-François JF; Amouyal, Mélanie M; Weill, Jacques J; Muller, Jean J; Sand, Olivier O; Delobel, Bruno B; Froguel, Philippe P; Bonnefond, Amélie A

Publication Date: 2018-07

Variant appearance in text: NF1: 3989A>C; Glu1330Ala

PubMed Link: 29784605

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page