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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participantsAmir Hossein Saeidian, Michael E March, Leila Youssefian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in femalesDong Li, Alanna Strong, Kaitlyn M Shen, et al.Nature Cell Biology|January 17, 2012
Programming human pluripotent stem cells into white and brown adipocytesTim Ahfeldt, Robert T Schinzel, Youn-Kyoung Lee, et al.Frontiers in Genetics|July 11, 2026
A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case reportDmitrijs Rots, Beatriz Cristina de Oliveira, Laura Machado Lara Carvalho, et al.Nature Nanotechnology|June 15, 2026
Efficient prime editing in vivo and in vitro using lipid nanoparticlesAllen Y Jiang, Ana Cristian, Dominique L Brooks, et al.Cell Stem Cell|November 27, 2015
Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem CellsFelix C Giani, Claudia Fiorini, Aoi Wakabayashi, et al.Nature Communications|October 24, 2015
Modelling kidney disease with CRISPR-mutant kidney organoids derived from human pluripotent epiblast spheroidsBenjamin S Freedman, Craig R Brooks, Albert Q Lam, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndromeAlanna Strong, Michael E March, Christopher J Cardinale, et al.Circulation. Cardiovascular Genetics|September 23, 2010
Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for increased vascular diseaseKiran Musunuru, Wendy S Post, William Herzog, et al.Cell Stem Cell|February 2, 2021
Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genesParisha P Shah, Wenjian Lv, Joshua H Rhoades, et al.Pageof 22