Gerard C. P. Schaafsma

LOVD v.2.0: the next generation in gene variant databases

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson et al. · Human Mutation · 2011 · 155 citations · Full text

Medicine, Genetics, Ophthalmology +17

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

H. Yesid Estupiñán, Qing Wang, Anna Berglöf et al. · Leukemia · 2021 · 73 citations · Full text

Medicine, Oncology, Pharmacology +14

VariSNP, A Benchmark Database for Variations From dbSNP

Gerard C. P. Schaafsma, Mauno Vihinen · Human Mutation · 2014 · 66 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases

Gerard C. P. Schaafsma, Mauno Vihinen · Human Mutation · 2017 · 24 citations

Life Sciences, Bioinformatics, Genetics +16