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Long runs of homozygosity are enriched for deleterious variation.
Szpiech ZA, Xu J, Pemberton TJ, Peng W, Zöllner S, Rosenberg NA, Li JZ. Szpiech ZA, et al. Among authors: peng w. Am J Hum Genet. 2013 Jul 11;93(1):90-102. doi: 10.1016/j.ajhg.2013.05.003. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746547 Free PMC article.
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. Bedoyan JK, et al. Among authors: peng w. J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575. J Med Genet. 2012. PMID: 22581972 Free PMC article.
5,870 results