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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Maiti AK, et al. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics. 2001;72(1):21-33. doi:10.1006/geno.2000.6462

Iterative template refinement: protein-fold prediction using iterative search and hybrid sequence/structure templates.

Yi TM, Lander ES. Iterative template refinement: protein-fold prediction using iterative search and hybrid sequence/structure templates. Methods Enzymol. 1996;266:322-39.

Disruption of the nuclear hormone receptor RORalpha in staggerer mice.

Hamilton BA, Frankel WN, Kerrebrock AW, et al. Disruption of the nuclear hormone receptor RORalpha in staggerer mice. Nature. 1996;379(6567):736-9. doi:10.1038/379736a0

Serrate2 is disrupted in the mouse limb-development mutant syndactylism.

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

Finishing the euchromatic sequence of the human genome.

International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931-45. doi:10.1038/nature03001

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries.

Kusumi K, Sun ES, Kerrebrock AW, et al. The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat Genet. 1998;19(3):274-8. doi:10.1038/961

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet. 1998;19(3):286-8. doi:10.1038/975

A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant.

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

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

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

The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression.

Hamilton BA, Smith DJ, Mueller KL, et al. The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression. Neuron. 1997;18(5):711-22.