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American Journal of Human Genetics|November 16, 2016
Allele-Specific Methylome and Transcriptome Analysis Reveals Widespread Imprinting in the Human PlacentaHirotaka Hamada, Hiroaki Okae, Hidehiro Toh, et al.American Journal of Human Genetics|November 16, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and ScoliosisAndrea Delle Vedove, Markus Storbeck, Raoul Heller, et al.American Journal of Human Genetics|April 29, 2014
Convergence of genes and cellular pathways dysregulated in autism spectrum disordersDalila Pinto, Elsa Delaby, Daniele Merico, et al.American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.American Journal of Human Genetics|February 1, 1986
Galactosialidosis: molecular heterogeneity among distinct clinical phenotypesS Palmeri, A T Hoogeveen, F W Verheijen, et al.American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.American Journal of Human Genetics|November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsNiki T Loges, Dinu Antony, Ales Maver, et al.American Journal of Human Genetics|February 19, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME DysplasiaHae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, et al.American Journal of Human Genetics|March 5, 2019
Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria ExposureGuillaume Laval, Stéphane Peyrégne, Nora Zidane, et al.Pageof 979