Engert JC, Bérubé P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000;24(2):120-5. doi:10.1038/72769
Sidow A, Bulotsky MS, Kerrebrock AW, et al. A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant. Nat Genet. 1999;23(1):104-7. doi:10.1038/12709
Sidow A, Bulotsky MS, Kerrebrock AW, et al. Serrate2 is disrupted in the mouse limb-development mutant syndactylism. Nature. 1997;389(6652):722-5. doi:10.1038/39587
Hästbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994;78(6):1073-87.
Okosun J, Wolfson RL, Wang J, et al. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet. 2016;48(2):183-8. doi:10.1038/ng.3473
Whitman MC, Andrews C, Chan WM, et al. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016;170A(2):297-305. doi:10.1002/ajmg.a.37362
Muona M, Berkovic SF, Dibbens LM, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015;47(1):39-46. doi:10.1038/ng.3144