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Human Molecular Genetics|January 28, 2020
Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate controlJames Boocock, Megan Leask, Yukinori Okada, et al.Human Molecular Genetics|April 3, 2017
Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disordersIrene Aksoy, Kagistia H Utami, Cecilia L Winata, et al.Human Molecular Genetics|April 4, 2017
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansSharon Kim, Stephen R F Twigg, Victoria A Scanlon, et al.Human Molecular Genetics|February 8, 2017
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresiaHiroshi Kurosaka, Qi Wang, Lisa Sandell, et al.Human Molecular Genetics|January 18, 2017
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutationEmma L Clayton, Renzo Mancuso, Troels Tolstrup Nielsen, et al.Human Molecular Genetics|August 17, 2019
Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse modelsNathan Kopp, Katherine McCullough, Susan E Maloney, et al.Human Molecular Genetics|July 20, 2019
Gene therapy of hemoglobinopathies: progress and future challengesYasuhiro Ikawa, Annarita Miccio, Elisa Magrin, et al.Human Molecular Genetics|November 17, 2018
Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and developmentAnita van den Heuvel, Ahmed Mahfouz, Susan L Kloet, et al.Human Molecular Genetics|November 17, 2018
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengersBianca Seminotti, Guilhian Leipnitz, Anuradha Karunanidhi, et al.Human Molecular Genetics|November 17, 2018
Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization studyPing Zeng, Xiang ZhouPageof 1,195