Guemez-Gamboa A, Nguyen LN, Yang H, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015;47(7):809-13. doi:10.1038/ng.3311
Narasimhan VM, Hunt KA, Mason D, et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016;352(6284):474-7. doi:10.1126/science.aac8624
Kruglyak L, Daly MJ, Lander ES. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet. 1995;56(2):519-27.
Lander ES, Botstein D. Consanguinity and heterogeneity: cystic fibrosis need not be homogeneous in Italy. Am J Hum Genet. 1986;39(2):282-3.
Gschwend M, Levran O, Kruglyak L, et al. A locus for Fanconi anemia on 16q determined by homozygosity mapping. Am J Hum Genet. 1996;59(2):377-84.
Ober C, Cox NJ, Abney M, et al. Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet. 1998;7(9):1393-8.
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.