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Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.Human Mutation|November 5, 2011
Identification of autosomal recessive disease loci using out-bred nuclear familiesIan M Carr, Christine P Diggle, Nader Touqan, et al.Human Mutation|October 6, 2011
NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndromeMartina P Pasillas, Meera Shah, Mark P KampsHuman Mutation|October 6, 2011
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomerKai Jie Wang, Sha Wang, Ni-Qian Cao, et al.Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.Human Mutation|September 29, 2011
The large-scale distribution of somatic mutations in cancer genomesAlan Hodgkinson, Ying Chen, Adam Eyre-WalkerHuman Mutation|September 29, 2011
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibilityMichel Crépin, Marie-Claire Dieu, Sophie Lejeune, et al.Human Mutation|November 9, 2011
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxiaNada Al Tassan, Dania Khalil, Jameela Shinwari, et al.Human Mutation|December 14, 2011
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.Pageof 583