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Human Molecular Genetics|March 11, 2021
Genome-wide polygenic risk score for retinopathy of type 2 diabetesIain S Forrest, Kumardeep Chaudhary, Ishan Paranjpe, et al.Human Molecular Genetics|March 12, 2021
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degenerationScott H Greenwald, Emily E Brown, Michael J Scandura, et al.Human Molecular Genetics|March 12, 2021
Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domainSatoshi Hara, Miho Terao, Atsumi Tsuji-Hosokawa, et al.Human Molecular Genetics|March 11, 2021
Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA miceMario Lopez-Manzaneda, Julio Franco-Espin, Rocio Tejero, et al.Human Molecular Genetics|March 11, 2021
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammationEleonora Panfili, Giada Mondanelli, Ciriana Orabona, et al.Human Molecular Genetics|March 11, 2021
SOX9 modulates cancer biomarker and cilia genes in pancreatic cancerHannah E Edelman, Sarah A McClymont, Tori R Tucker, et al.Human Molecular Genetics|December 1, 2021
Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosusHiroyuki Suetsugu, Kwangwoo Kim, Takuaki Yamamoto, et al.Human Molecular Genetics|July 27, 2019
Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMDNurit Yanay, Moran Elbaz, Jenya Konikov-Rozenman, et al.Human Molecular Genetics|July 24, 2019
Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retinaCongxiao Zhang, Kiyoharu J Miyagishima, Lijin Dong, et al.Human Molecular Genetics|October 26, 2018
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvementChristopher B Jackson, Martina Huemer, Ramona Bolognini, et al.Pageof 1,195