Gerard Schaafsma (Former)

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2023
Mark BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia : Looking Back and Ahead
Schaafsma, Gerard C.P. ^LU ; Väliaho, Jouni ; Wang, Qing ; Berglöf, Anna ; Zain, Rula ; Smith, C. I.Edvard and Vihinen, Mauno ^LU (2023) In Human Mutation 2023.
- Contribution to journal › Article
2021
Mark BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib
Estupiñán, H. Yesid ; Wang, Qing ; Berglöf, Anna ; Schaafsma, Gerard C.P. ^LU ; Shi, Yuye ; Zhou, Litao ; Mohammad, Dara K. ; Yu, Liang ; Vihinen, Mauno ^LU and Zain, Rula , et al. (2021) In Leukemia 35(5). p.1317-1329
- Contribution to journal › Article
2018
Mark Representativeness of variation benchmark datasets
Schaafsma, Gerard C P ^LU and Vihinen, Mauno ^LU (2018) In BMC Bioinformatics 19(1). p.461-461
- Contribution to journal › Article
2017
Mark Tools and annotations for variation
Schaafsma, Gerard C.P. ^LU (2017)
- Thesis › Doctoral thesis (compilation)
Mark Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
Schaafsma, Gerard C.P. ^LU and Vihinen, Mauno ^LU (2017) In Human Mutation 38(7). p.839-848
- Contribution to journal › Article
2016
Mark VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
Schaafsma, Gerard ^LU and Vihinen, Mauno ^LU (2016) In Human Mutation 37(4). p.344-349
- Contribution to journal › Article
Mark Human Variome Project Quality Assessment Criteria for Variation Databases.
Vihinen, Mauno ^LU ; Hancock, John M ; Maglott, Donna R ; Landrum, Melissa J ; Schaafsma, Gerard ^LU and Taschner, Peter (2016) In Human Mutation 37(6). p.549-549
- Contribution to journal › Article
2015
Mark Varisnp, A Benchmark Database For Variations from dbSNP.
Schaafsma, Gerard ^LU and Vihinen, Mauno ^LU (2015) In Human Mutation 36(2). p.161-166
- Contribution to journal › Article
Mark Genetic Variation in Bruton Tyrosine Kinase
Schaafsma, Gerard C. P. ^LU and Vihinen, Mauno ^LU (2015) p.75-85
- Chapter in Book/Report/Conference proceeding › Book chapter
2012
Mark Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
Bower, Matthew ; Salomon, Rémi ; Allanson, Judith ; Antignac, Corinne ; Benedicenti, Francesco ; Benetti, Elisa ; Binenbaum, Gil ; Jensen, Uffe B ; Cochat, Pierre and DeCramer, Stephane , et al. (2012) In Human Mutation 33(3). p.66-457
- Contribution to journal › Article

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