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Human Mutation|February 14, 2016
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase DeficiencyD Sean Froese, Martina Huemer, Terttu Suormala, et al.Human Mutation|May 25, 2012
Solving bottlenecks in data sharing in the life sciencesRaymond Dalgleish, Eva Molero, Richard Kidd, et al.Human Mutation|May 25, 2012
Gaucher disease paradigm: from ERAD to comorbidityInna Bendikov-Bar, Mia HorowitzHuman Mutation|March 26, 2013
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyMathieu Milh, Antonio Falace, Nathalie Villeneuve, et al.Human Mutation|July 30, 2013
CPAP: Cancer Panel Analysis PipelinePo-Jung Huang, Yuan-Ming Yeh, Ruei-Chi Gan, et al.Human Mutation|November 20, 2012
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealingWilliam I Towler, Jie Zhang, Derek J R Ransburgh, et al.Human Mutation|December 30, 2014
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitisAgnieszka Magdalena Rygiel, Sebastian Beer, Peter Simon, et al.Human Mutation|December 30, 2014
Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratioWenjuan Zhu, David N Cooper, Qiang Zhao, et al.Human Mutation|August 30, 2014
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsLaurie B Griffin, Reiko Sakaguchi, David McGuigan, et al.Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.Pageof 582