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Human Molecular Genetics|December 24, 2013
Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrateSteven J Brookes, Martin J Barron, Ray Boot-Handford, et al.Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.Human Molecular Genetics|December 24, 2013
Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membraneP Kevin Legan, Richard J Goodyear, Matías Morín, et al.Human Molecular Genetics|December 17, 2013
CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activityLaura Strittmatter, Yang Li, Nathan J Nakatsuka, et al.Human Molecular Genetics|December 17, 2013
The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal functionY Qin, Y Deng, C J Ricketts, et al.Human Molecular Genetics|December 17, 2013
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomasLuis Jaime Castro-Vega, Alexandre Buffet, Aguirre A De Cubas, et al.Human Molecular Genetics|August 22, 2014
Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatin-assembly complex gene in pre-eclampsiaCees B M Oudejans, Omar J Michel, Rob Janssen, et al.Human Molecular Genetics|August 22, 2014
Mutant huntingtin alters Tau phosphorylation and subcellular distributionDavid Blum, Federico Herrera, Laetitia Francelle, et al.Human Molecular Genetics|August 24, 2014
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genomeMeijun Du, Tiezheng Yuan, Kala F Schilter, et al.Human Molecular Genetics|August 24, 2014
Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosusYan Zhang, Jing Zhang, Jing Yang, et al.Pageof 1,195