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Human Mutation|June 24, 2008
Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skippingHeidi R Madden, Sue Fletcher, Mark R Davis, et al.
Human Mutation|June 21, 2008
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequencesMarty C Brandon, Eduardo Ruiz-Pesini, Dan Mishmar, et al.
Human Mutation|September 8, 2007
Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia AChristiane Mühle, Martin Zenker, Nadia Chuzhanova, et al.
Human Mutation|June 20, 2008
Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanomaChunying Li, Hui Zhao, Zhibin Hu, et al.
Human Mutation|March 27, 2010
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2AHeather A McKenzie, Carina Fung, Therese M Becker, et al.
Human Mutation|March 27, 2010
Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson diseaseGerassimos E Voutsinas, Eleana F Stavrou, Gerassimos Karousos, et al.
Human Mutation|October 8, 2009
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)Ivy Jennes, Elena Pedrini, Monia Zuntini, et al.
Human Mutation|April 19, 2006
Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expressionXiaowei Chen, Tuyet-Trinh N Truong, JoEllen Weaver, et al.
Human Mutation|July 17, 2009
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sitesSandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, et al.
Human Mutation|July 17, 2009
EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionallyYuichi Abe, Akira Oka, Masashi Mizuguchi, et al.
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