Litcius/Paper detail

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

Amali Mallawaarachchi, Ben Lundie, Yvonne Hort, Nicole Schönrock, Sarah R. Senum, Velimir Gayevskiy, André E. Minoche, Georgina E. Hollway, Thomas Ohnesorg, Marcus Hinchcliffe, Chirag Patel, Michel Tchan, Andrew J. Mallett, Marcel E. Dinger, Gopala K. Rangan, Mark J. Cowley, Peter C. Harris, Leslie Burnett, John Shine, Timothy J. Furlong

2021European Journal of Human Genetics61 citationsDOIOpen Access PDF

Topics & Concepts

PKD1Autosomal dominant polycystic kidney diseaseSanger sequencingWhole genome sequencingPolycystic kidney diseaseGeneticsBiologyGenetic testingPhenocopyMedicineDiseaseInternal medicineDNA sequencingGenomeGenePhenotypeGenetic and Kidney Cyst DiseasesRenal and related cancersGenetic Syndromes and Imprinting