Trinucleotide Repeat Protocols

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Critical assessment of bioinformatics methods for the characterization of pathological repeat expansions with single-molecule sequencing data

Article in Briefings in Bioinformatics (December 2019)

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

Article in Human Mutation (May 2018)

Forensic Aspects of Adult and General Neuropathology

Book chapter (May 2014)

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