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.
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.
Ghani M, Reitz C, Cheng R, et al. Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol. 2015;72(11):1313-23. doi:10.1001/jamaneurol.2015.1700
Rees E, Kirov G, Walters JT, et al. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Transl Psychiatry. 2015;5:e607. doi:10.1038/tp.2015.99
Ruchi R, Genovese G, Lee J, et al. Copy Number Variation at the APOL1 Locus. PLoS One. 2015;10(5):e0125410. doi:10.1371/journal.pone.0125410
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
Lim ET, Liu YP, Chan Y, et al. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014;95(5):509-20. doi:10.1016/j.ajhg.2014.09.015
Menezes MP, Waddell L, Lenk GM, et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-70. doi:10.1016/j.nmd.2014.04.010