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Human Mutation|May 13, 2008
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzymeGabriela Chavarria-Soley, Heinrich Sticht, Eleni Aklillu, et al.Human Mutation|May 13, 2008
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genesMarco Groth, Karol Szafranski, Stefan Taudien, et al.Human Mutation|February 15, 2008
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type IIBo Dreyer, Vigdis Brox, Lisbeth Tranebjaerg, et al.Human Mutation|April 23, 2008
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe diseaseM G Pittis, M Donnarumma, A L E Montalvo, et al.Human Mutation|June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.Human Mutation|April 3, 2008
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathyMontserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, et al.Human Mutation|March 19, 2008
Large scale DNA sequencing: new challenges emerge--the 2007 Human Genome Variation Society scientific meetingWilliam S OettingHuman Mutation|March 12, 2008
PharmGKB and the International Warfarin Pharmacogenetics Consortium: the changing role for pharmacogenomic databases and single-drug pharmacogeneticsRyan P Owen, Russ B Altman, Teri E KleinHuman Mutation|March 11, 2008
Validation of the performance of a comprehensive genotyping assay panel of single nucleotide polymorphisms in drug metabolism enzyme genesRobert A Welch, Katherine Lazaruk, Kashif A Haque, et al.Pageof 578