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List of works by Cian Murphy

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy

scientific journal article

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

scientific article

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

scientific article (publication date: 2016)

Phenogenon: Gene to phenotype associations for rare genetic diseases

scientific article published on 09 April 2020

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

scientific article

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

scientific article

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