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Human Molecular Genetics|November 17, 2018
Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locusJames P Davis, Swarooparani Vadlamudi, Tamara S Roman, et al.Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.Human Molecular Genetics|November 22, 2018
Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophyChristopher R S Banerji, Maryna Panamarova, Johanna Pruller, et al.Human Molecular Genetics|January 22, 2021
Multi-omics analyses of cognitive traits and psychiatric disorders highlights brain-dependent mechanismsRoxanna Korologou-Linden, Genevieve M Leyden, Caroline L Relton, et al.Human Molecular Genetics|February 19, 2021
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutationsStijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf, et al.Human Molecular Genetics|February 21, 2021
Imputed gene expression risk scores: a functionally informed component of polygenic riskOliver Pain, Kylie P Glanville, Saskia Hagenaars, et al.Human Molecular Genetics|February 22, 2021
Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosisXiaopeng Xu, Bingqing Wang, Zhuoyuan Jiang, et al.Human Molecular Genetics|February 12, 2021
Single-cell RNA sequencing reveals species-specific time spans of cell cycle transitions in early oogenesisZheng-Hui Zhao, Tie-Gang Meng, Hong-Yong Zhang, et al.Human Molecular Genetics|February 17, 2017
Remodelling of microRNAs in colorectal cancer by hypoxia alters metabolism profiles and 5-fluorouracil resistanceAnke Nijhuis, Hannah Thompson, Julie Adam, et al.Human Molecular Genetics|February 4, 2017
A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smokingTianxiao Huan, Roby Joehanes, Claudia Schurmann, et al.Pageof 1,195