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Human Mutation|May 23, 2009
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signalingPatrick W Blake, Jorge R ToroHuman Mutation|April 23, 2009
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E geneLars G Fritsche, Sandra Freitag-Wolf, Thomas Bettecken, et al.Human Mutation|April 23, 2009
Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008Anthony J Brookes, Stephen J Chanock, Thomas J Hudson, et al.Human Mutation|April 23, 2009
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiencySaskia J G Hoefs, Cindy E J Dieteren, Richard J Rodenburg, et al.Human Mutation|January 4, 2012
Exome and genome analysis as a tool for disease identification and treatment: the 2011 Human Genome Variation Society scientific meetingWilliam S OettingHuman Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.Human Mutation|February 15, 2012
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbingWenke Seifert, Jirko Kühnisch, Beyhan Tüysüz, et al.Human Mutation|February 15, 2012
Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directionsJohn C Carey, Judith E Allanson, Raoul C M Hennekam, et al.Human Mutation|March 8, 2012
Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disordersHannah Boulding, Caleb WebberHuman Mutation|March 15, 2012
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locusMohammed A Aldahmesh, Arif O Khan, Jawahir Y Mohamed, et al.Pageof 583