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Human Mutation|March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypesKatherine V Towns, Athina Kipioti, Vernon Long, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Human Mutation|March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsMarlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
Human Mutation|March 17, 2010
Role of SFRS13A in low-density lipoprotein receptor splicingI-Fang Ling, Steven Estus
Human Mutation|March 17, 2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al.
Human Mutation|March 6, 2010
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenesCecily P Vaughn, Jorge Robles, Jeffrey J Swensen, et al.
Human Mutation|December 22, 2009
dbSNP in the detail and copy number complexitiesIan N M Day
Human Mutation|January 16, 2010
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrilsChristiane Otten, Uwe Hansen, Anja Talke, et al.
Human Mutation|January 16, 2010
An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational historyTom R Gaunt, Santiago Rodriguez, Philip A I Guthrie, et al.
Human Mutation|January 7, 2010
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards"Heather J Howard, Ourania Horaitis, Richard G H Cotton, et al.
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