Associated Papers
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S3
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12
Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.
Parker GJ et al.
Plos One, 2016
27603779 (PubMed )
Supplement: pone.0160653.s004.pdf
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
McAleer MA et al.
The Journal of Allergy and Clinical Immunology, 2015
Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes.
Gréen A et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Barahona-Dussault C et al.
Clinical Genetics, 2010
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.
Koopmann TT et al.
Heart Rhythm, 2007
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.
Rangaraju A et al.
Indian Pacing and Electrophysiology Journal, 0
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