Mattia Calissano

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy

Irina Zaharieva, Mattia Calissano, Mariacristina Scoto et al. · PLoS ONE · 2013 · 151 citations · Full text

Muscle Function, Engineering, Diagnosis +17

Novel mutations expand the clinical spectrum of <i>DYNC1H1</i> -associated spinal muscular atrophy

Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms et al. · Neurology · 2015 · 127 citations · Full text

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Nicholas J. Timpson, Klaudia Walter, Josine L. Min et al. · Nature Communications · 2014 · 74 citations · Full text