Jouni Väliaho
Directorate-General for Interpretation(BE)
Publications by Year
Research Areas
Immunodeficiency and Autoimmune Disorders, Genomics and Rare Diseases, Chronic Lymphocytic Leukemia Research, Genomics and Phylogenetic Studies, Chromosomal and Genetic Variations
Most-Cited Works
- → Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling(2005)203 cited
- → BTKbase: the mutation database for X-linked agammaglobulinemia(2006)198 cited
- → Immunodeficiency mutation databases (IDbases)(2006)126 cited
- → 4 Primary immunodeficiency mutation databases(2001)99 cited
- → PON-P: Integrated predictor for pathogenicity of missense variants(2012)98 cited
- → PhenCode: connecting ENCODE data with mutations and phenotype(2007)82 cited
- → KinMutBase: A registry of disease-causing mutations in protein kinase domains(2005)64 cited
- Lindvall, J. M. et al. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol. Rev. 203, 200-215(2005)
- → Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase(2015)45 cited
- → Structural Basis of Bloom Syndrome (BS) Causing Mutations in the BLM Helicase Domain(2000)37 cited