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Human Mutation|January 20, 2016
HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in TibetansDeying Yang, Yi Peng, Ouzhuluobu, et al.
Human Mutation|December 16, 2014
Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidiesDiane Van Opstal, Femke de Vries, Lutgarde Govaerts, et al.
Human Mutation|September 24, 2015
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseNick Dand, Reiner Schulz, Michael E Weale, et al.
Human Mutation|October 8, 2015
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)Christopher Douville, David L Masica, Peter D Stenson, et al.
Human Mutation|October 15, 2015
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseAlessandra Capuano, Francesco Bucciotti, Kelly D Farwell, et al.
Human Mutation|October 16, 2015
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited DiseaseMihir Anant Kamat, Albino Bacolla, David N Cooper, et al.
Human Mutation|September 29, 2015
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium CohortRita Cacace, Tobi Van den Bossche, Sebastiaan Engelborghs, et al.
Human Mutation|September 18, 2015
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense VariantsCarina Rodrigues, Alice Santos-Silva, Elísio Costa, et al.
Human Mutation|January 13, 2015
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomalyRalph J Hazlewood, Benjamin R Roos, Frances Solivan-Timpe, et al.
Human Mutation|September 27, 2014
A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery diseaseMohsen Ghanbari, Paul S de Vries, Hans de Looper, et al.
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