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Human Mutation|May 12, 2009
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological functionChiara Vantaggiato, Francesca Redaelli, Sestina Falcone, et al.
Human Mutation|March 6, 2009
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive proteinRaffaella Rossetti, Elisa Di Pasquale, Anna Marozzi, et al.
Human Mutation|March 13, 2009
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patientsGerlind Franke, Birke Bausch, Michael M Hoffmann, et al.
Human Mutation|May 30, 2009
The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variationAnthony J Brookes, Heikki Lehvaslaiho, Juha Muilu, et al.
Human Mutation|December 24, 2008
MedRefSNP: a database of medically investigated SNPsHwanseok Rhee, Jin-Sung Lee
Human Mutation|January 2, 2009
IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumorsFonnet E Bleeker, Simona Lamba, Sieger Leenstra, et al.
Human Mutation|December 6, 2008
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression systemCaroline Bleicken, Lourdes Loidi, Vivek Dhir, et al.
Human Mutation|December 11, 2008
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyBaijayanta Maiti, Sandrine Arbogast, Valérie Allamand, et al.
Human Mutation|February 26, 2009
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutationsEva Pros, Juana Fernández-Rodríguez, Belén Canet, et al.
Human Mutation|March 24, 2009
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in IrelandJohn M Darlow, Niamh H N Molloy, Andrew J Green, et al.
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