Braun DA, Shril S, Sinha A, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018;176(11):2460-2465. doi:10.1002/ajmg.a.40489
Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet. 2001;17(9):502-10.
Perić S, Glumac JN, Topf A, et al. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. Eur J Hum Genet. 2017;25(5):572-581. doi:10.1038/ejhg.2017.16
Sandaradura SA, Bournazos A, Mallawaarachchi A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018;39(3):383-388. doi:10.1002/humu.23385
Di Gioia SA, Connors S, Matsunami N, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017;8:16077. doi:10.1038/ncomms16077
Nakatsuka N, Moorjani P, Rai N, et al. The promise of discovering population-specific disease-associated genes in South Asia. Nat Genet. 2017;49(9):1403-1407. doi:10.1038/ng.3917
Sergouniotis PI, Chakarova C, Murphy C, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014;94(5):760-9. doi:10.1016/j.ajhg.2014.04.003
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
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
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