Mattia Calissano
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
RNA Research and Splicing, Genetic Associations and Epidemiology, RNA Interference and Gene Delivery, MicroRNA in disease regulation, Cardiac electrophysiology and arrhythmias
Most-Cited Works
- → Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel(2015)380 cited
- → Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2016)259 cited
- → Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy(2013)152 cited
- → Novel mutations expand the clinical spectrum of DYNC1H1 -associated spinal muscular atrophy(2015)128 cited
- → Whole-genome sequence-based analysis of thyroid function(2015)105 cited
- → TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2015)81 cited
- → A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans(2014)74 cited
- → Low-frequency variation in TP53 has large effects on head circumference and intracranial volume(2019)40 cited
- → Identification and characterization of the promoter region of the Nav1.7 voltage-gated sodium channel gene (SCN9A)(2008)34 cited
- → Comparative mass spectrometric and immunoassay‐based proteome analysis in serum of Duchenne muscular dystrophy patients(2015)33 cited