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Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Human Mutation|January 20, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme ActivityMarisa I Mendes, Desirée Ec Smith, Ana Pop, et al.
Human Mutation|February 24, 2017
A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humansTommy E White, Alberto Brandariz-Nuñez, Alicia Martinez-Lopez, et al.
Human Mutation|January 26, 2017
Predicting enhancer activity and variant impact using gkm-SVMMichael A Beer
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Human Mutation|March 26, 2019
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variantsAna Pop, Eduard A Struys, Erwin E W Jansen, et al.
Human Mutation|March 26, 2019
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defectAndrey V Marakhonov, Andreas Brodehl, Roman P Myasnikov, et al.
Human Mutation|March 3, 2019
Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle EastAbdul K Siraj, Rong Bu, Kaleem Iqbal, et al.
Human Mutation|January 31, 2014
Locus-specific databases in cancer: what future in a post-genomic era? The TP53 LSDB paradigmThierry Soussi
Human Mutation|October 16, 2009
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activitySandrine Tchatchou, Angela Riedel, Stefan Lyer, et al.
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