Vihinen, Mauno

Performance of mutation pathogenicity prediction methods on missense variants

Thusberg, J., Olatubosun, A., & Vihinen, M. (2011) · Human Mutation

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 537

BTKbase: the mutation database for X-linked agammaglobulinemia

Väliaho, J., Smith, C. I. E., & Vihinen, M. (2006) · Human Mutation

Immunodeficiency and Autoimmune DisordersGenomics and Rare Diseases

Cited by 196

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance

Naeem, A., Utro, F., Wang, Q., Cha, J., Vihinen, M., Martindale, S., Zhou, Y., Ren, Y., Tyekucheva, S., Kim, A. S., et al. (2023) · Blood Advances

Chronic Lymphocytic Leukemia ResearchLymphoma Diagnosis and Treatment

Cited by 87

BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib

Estupiñán, H. Y., Wang, Q., Berglöf, A., Schaafsma, G. C. P., Shi, Y., Zhou, L., Mohammad, D. K., Yu, L., Vihinen, M., Zain, R., et al. (2021) · Leukemia

Chronic Lymphocytic Leukemia ResearchLung Cancer Treatments and Mutations

Cited by 80

Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant

Hamasy, A., Wang, Q., Blomberg, K. E. M., Mohammad, D. K., Yu, L., Vihinen, M., Berglöf, A., & Smith, C. I. E. (2017) · Leukemia

Chronic Lymphocytic Leukemia ResearchLymphoma Diagnosis and Treatment

Cited by 62

Problems in variation interpretation guidelines and in their implementation in computational tools

Vihinen, M. (2020) · Molecular Genetics & Genomic Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 22