Associated Papers
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B et al.
Nature Neuroscience, 2022
FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.
Deshmukh AL et al.
Cell Reports, 2021
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S et al.
Human Molecular Genetics, 2012
Analysis of the coding genome of diffuse large B-cell lymphoma.
Pasqualucci L et al.
Nature Genetics, 2011
21804550 (PubMed )
Supplement: NIHMS308546-supplement-1.pdf
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