Cian Murphy

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy et al. · The American Journal of Human Genetics · 2014 · 84 citations · Full text

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

Laurence Nunn, Luís R. Lopes, Petros Syrris et al. · EP Europace · 2015 · 80 citations · Full text

Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma

James R. Black, Gábor Bartha, Charles W. Abbott et al. · Nature Medicine · 2025 · 52 citations · Full text

Ctdna Detection Approach, Advanced Lung Disease, Pathology +16

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

Nikolas Pontikos, Jing Yu, Ismail Moghul et al. · Bioinformatics · 2017 · 50 citations · Full text

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

Luís R. Lopes, Cian Murphy, Petros Syrris et al. · European Journal of Medical Genetics · 2015 · 43 citations

Cardiomyopathy, Next-generation Sequencing, Genetics +10