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Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.Brain : a Journal of Neurology|April 28, 2022
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onsetJoanne Trinh, Theresa Lüth, Susen Schaake, et al.Molecular Psychiatry|May 13, 2022
Genome-wide tandem repeat expansions contribute to schizophrenia riskBahareh A Mojarad, Worrawat Engchuan, Brett Trost, et al.American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.Science Advances|July 19, 2024
Huntingtin is an RNA binding protein and participates in NEAT1-mediated paraspecklesManisha Yadav, Rachel J Harding, Tiantian Li, et al.Journal of Medical Genetics|April 20, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics RepositoryChloe Mighton, Amanda C Smith, Justin Mayers, et al.Biorxiv : the Preprint Server for Biology|May 7, 2025
Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidenceTerence Gall-Duncan, Sangyoon Y Ko, Isabelle K Quick, et al.Nature Communications|April 9, 2025
Mutant huntingtin induces neuronal apoptosis via derepressing the non-canonical poly(A) polymerase PAPD5Zhefan Stephen Chen, Shaohong Isaac Peng, Lok I Leong, et al.Ebiomedicine|February 28, 2024
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathyAleksandra Mitina, Mahreen Khan, Robert Lesurf, et al.Nature Genetics|February 16, 2020
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivoMasayuki Nakamori, Gagan B Panigrahi, Stella Lanni, et al.Pageof 10