Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Jon Beck, Mark Poulter, Davina J. Hensman Moss et al. · The American Journal of Human Genetics · 2013 · 345 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome

Stela Filipovic-Sadic, Sachin Sah, Liangjing Chen et al. · Clinical Chemistry · 2010 · 278 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Ellis Niemantsverdriet et al. · The Lancet Neurology · 2013 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

David J. Irwin, Nigel J. Cairns, Murray Grossman et al. · Acta Neuropathologica · 2014 · 265 citations · Full text

Life Sciences, Genetics, Molecular Medicine +13