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Representativeness of variation benchmark datasets.
Schaafsma GCP, Vihinen M. Schaafsma GCP, et al. BMC Bioinformatics. 2018 Nov 29;19(1):461. doi: 10.1186/s12859-018-2478-6. BMC Bioinformatics. 2018. PMID: 30497376 Free PMC article.
BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib.
Estupiñán HY, Wang Q, Berglöf A, Schaafsma GCP, Shi Y, Zhou L, Mohammad DK, Yu L, Vihinen M, Zain R, Smith CIE. Estupiñán HY, et al. Among authors: schaafsma gcp. Leukemia. 2021 May;35(5):1317-1329. doi: 10.1038/s41375-021-01123-6. Epub 2021 Feb 1. Leukemia. 2021. PMID: 33526860 Free PMC article.
LOVD v.2.0: the next generation in gene variant databases.
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Bower M, et al. Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31. Hum Mutat. 2012. PMID: 22213154