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Human Mutation|November 4, 2014
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variantNathalie M Bax, Riccardo Sangermano, Susanne Roosing, et al.Human Mutation|November 11, 2014
ProKinO: a unified resource for mining the cancer kinomeDaniel Ian McSkimming, Shima Dastgheib, Eric Talevich, et al.Human Mutation|July 12, 2016
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid SubstitutionsCasandra Riera, Natàlia Padilla, Xavier de la CruzHuman Mutation|July 14, 2016
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal DetachmentCarl Spickett, Pirro Hysi, Chistopher J Hammond, et al.Human Mutation|June 15, 2016
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni SyndromeBadr Id Said, Han Kim, James Tran, et al.Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.Human Mutation|June 23, 2016
A Role for the Chromatin-Remodeling Factor BAZ1A in NeurodevelopmentAmmar Zaghlool, Jonatan Halvardson, Jin J Zhao, et al.Human Mutation|June 14, 2016
Human Mitochondrial Cytochrome b Variants Studied in Yeast: Not All Are Silent PolymorphismsZehua Song, Anaïs Laleve, Cindy Vallières, et al.Human Mutation|March 2, 2016
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous RecombinationLusine Nazaryan-Petersen, Birgitte Bertelsen, Mads Bak, et al.Pageof 583