Janita Thusberg

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Performance of mutation pathogenicity prediction methods on missense variants

Janita Thusberg, Ayodeji Olatubosun, Mauno Vihinen · Human Mutation · 2011 · 543 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

C. Ackerman, Adam E. Locke, Eleanor Feingold et al. · The American Journal of Human Genetics · 2012 · 123 citations · Full text

Medicine, Genetics, Molecular Genetics +16

PON-P: Integrated predictor for pathogenicity of missense variants

Ayodeji Olatubosun, Jouni Väliaho, Jani Härkönen et al. · Human Mutation · 2012 · 98 citations

Life Sciences, Bioinformatics, Genetics +17

Genome wide analysis of pathogenic SH2 domain mutations

Ilkka Lappalainen, Janita Thusberg, Bairong Shen et al. · Proteins Structure Function and Bioinformatics · 2008 · 61 citations

Life Sciences, Genetics, Molecular Biology +15