Associated Papers
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
O'Neill MJ et al.
Nature Communications, 2024
39333091 (PubMed )
Supplement: 41467_2024_52474_MOESM1_ESM.pdf
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM3_ESM.xlsx › Table_2_RNA_studies__n_58_
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Martone S et al.
Frontiers in Genetics, 2022
36437915 (PubMed )
Supplement: Table3.xlsx › Supp_Table_3
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Raju H et al.
Bmc Cardiovascular Disorders, 2019
31337358 (PubMed )
Supplement: 12872_2019_1154_MOESM1_ESM.pdf
Cribriform-Morular Variant of Papillary Thyroid Carcinoma With Poorly Differentiated Features: A Case Report With Immunohistochemical and Molecular Genetic Analysis.
Corean J et al.
International Journal of Surgical Pathology, 2019
Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.
Marcondes L et al.
Plos One, 2018
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.
Leong IUS et al.
Journal of Clinical Medicine Research, 2017
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
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