Read our latest published papers and see what we have shared with the world.
- Striatal pathology in Spinocerebellar Ataxia Type 1 mice: A comparative study with Huntington’s disease
- FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes
- Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes
- Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidence
- Mutant huntingtin induces neuronal apoptosis via derepressing the non-canonical poly(A) polymerase PAPD5
- C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A
- Huntingtin is an RNA binding protein and participates in NEAT1-mediated paraspeckles
- Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism
- Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy
- Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum
- Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
- The COVID-19 Applicant: The Rise of Twitter Among Matched Neurosurgery Applicants
- Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures
- Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and Cerebellum
- Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
- Fragile sites, chromosomal lesions, tandem repeats, and disease
- De novo mutations, genetic mosaicism and human disease
- Genome-wide tandem repeat expansions contribute to schizophrenia risk
- CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral-pallidoluysian atrophy
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
- FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability
- ATRX proximal protein associations boast roles beyond histone deposition
- Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome
- Erratum: Experimental characterization of vertical-axis wind turbine noise [J. Acoust. Soc. Am. 137, EL111 (2015)]
- FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats
- FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
- Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease