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Human Mutation|April 30, 2009
A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?Raffaella Rusconi, Romina Combi, Sandrine Cestèle, et al.
Human Mutation|April 24, 2009
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generationKaren Bedard, Homa Attar, Jérôme Bonnefont, et al.
Human Mutation|December 24, 2008
The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative diseasePaul N Valdmanis, Dominique J Verlaan, Guy A Rouleau
Human Mutation|October 31, 2008
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndromeSofie Symoens, Fransiska Malfait, Marjolijn Renard, et al.
Human Mutation|October 28, 2008
Genetic evidence and integration of various data sources for classifying uncertain variants into a single modelDavid E Goldgar, Douglas F Easton, Graham B Byrnes, et al.
Human Mutation|October 28, 2008
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genesMarc S Greenblatt, Lawrence C Brody, William D Foulkes, et al.
Human Mutation|October 28, 2008
A database to support the interpretation of human mismatch repair gene variantsJianghua Ou, Renée C Niessen, Jan Vonk, et al.
Human Mutation|October 28, 2008
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significanceRobert M W Hofstra, Amanda B Spurdle, Diana Eccles, et al.
Human Mutation|August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridizationDaniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Human Mutation|December 17, 2008
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1Frederick S Kaplan, Meiqi Xu, Petra Seemann, et al.
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