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American Journal of Human Genetics|November 9, 2024
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assemblyYulia Mostovoy, Philip M Boone, Yongqing Huang, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 2004
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onsetNancy S Wexler, Judith Lorimer, Julie Porter, et al.JAMA Neurology|November 17, 2015
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials, Kevin Michael Biglan, Ira Shoulson, et al.Medrxiv : the Preprint Server for Health Sciences|March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.Pageof 2