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Human Molecular Genetics|July 16, 2019
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndromeAndrey V Marakhonov, Tatyana A Vasilyeva, Anna A Voskresenskaya, et al.Human Molecular Genetics|April 25, 2024
Genetic correlation between circulating cytokines and risk of three ophthalmic diseases: a bidirectional two-sample Mendelian randomization studyXin Zhang, Qiangqiang Fu, Yuying Cai, et al.Human Molecular Genetics|April 20, 2024
Impact of the inaccessible genome on genotype imputation and genome-wide association studiesEva König, Jonathan Stewart Mitchell, Michele Filosi, et al.Human Molecular Genetics|April 19, 2024
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activityBeatriz Fernández-Varas, Cristina Manguan-García, Javier Rodriguez-Centeno, et al.Human Molecular Genetics|August 16, 2014
Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in miceRuth Taylor, Anwen Bullen, Stuart L Johnson, et al.Human Molecular Genetics|July 9, 2014
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouseMichael W Stuck, Shannon M Conley, Muna I NaashHuman Molecular Genetics|July 11, 2014
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityBas F J Wanschers, Radek Szklarczyk, Mariël A M van den Brand, et al.Human Molecular Genetics|October 29, 2013
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular developmentJoëlle Kartopawiro, Neil I Bower, Tara Karnezis, et al.Human Molecular Genetics|October 29, 2013
Cross-sectional and longitudinal changes in DNA methylation with age: an epigenome-wide analysis revealing over 60 novel age-associated CpG sitesInes Florath, Katja Butterbach, Heiko Müller, et al.Human Molecular Genetics|October 29, 2013
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populationsXana Kim-Howard, Celi Sun, Julio E Molineros, et al.Pageof 1,195