McClellan JM, Zoghbi AW, Buxbaum JD, et al. An evolutionary perspective on complex neuropsychiatric disease. Neuron. 2024;112(1):7-24. doi:10.1016/j.neuron.2023.10.037.

Kim AR, Ulirsch JC, Wilmes S, et al. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017;168(6):1053-1064.e15. doi:10.1016/j.cell.2017.02.026.

Saleheen D, Natarajan P, Armean IM, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017;544(7649):235-239. doi:10.1038/nature22034.

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.

Law R, Dixon-Salazar T, Jerber J, et al. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet. 2014;95(6):721-8. doi:10.1016/j.ajhg.2014.10.016.

Ahmed MY, Chioza BA, Rajab A, et al. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015;84(17):1745-50. doi:10.1212/WNL.0000000000001523.

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.