Hacia JG, Fan JB, Ryder O, et al. Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet. 1999;22(2):164-7. doi:10.1038/9674
Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24(4):438-41. doi:10.1038/74307
Laitinen T, Daly MJ, Rioux JD, et al. A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet. 2001;28(1):87-91. doi:10.1038/88319
Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 1987;236(4808):1567-70.
Accili D, Frapier C, Mosthaf L, et al. A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J. 1989;8(9):2509-17.
Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010;363(23):2220-7. doi:10.1056/NEJMoa1002926
Francioli LC, Cretu-Stancu M, Garimella KV, et al. A framework for the detection of de novo mutations in family-based sequencing data. Eur J Hum Genet. 2017;25(2):227-233. doi:10.1038/ejhg.2016.147
Shaw SY, Blodgett DM, Ma MS, et al. Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. Proc Natl Acad Sci U S A. 2011;108(2):492-7. doi:10.1073/pnas.1016789108
Lee N, Daly MJ, DelMonte T, et al. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet. 2001;68(2):397-409. doi:10.1086/318197
Okada Y, Diogo D, Greenberg JD, et al. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One. 2014;9(2):e87645. doi:10.1371/journal.pone.0087645