Publications:

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: NRAS: 227A>G; Glu76Gly

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s10.xlsx, sheet 8
• bty518_supplementary_data_s10.xlsx, sheet 9

View BVdb publication page

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

European Journal Of Human Genetics : Ejhg

Mason-Suares, Heather H; Toledo, Diana D; Gekas, Jean J; Lafferty, Katherine A KA; Meeks, Naomi N; Pacheco, M Cristina MC; Sharpe, David D; Mullen, Thomas E TE; Lebo, Matthew S MS

Publication Date: 2017-04

Variant appearance in text: NRAS: 227A>G

PubMed Link: 28098151

Variant Present in the following documents:

• Main text

View BVdb publication page