Browsing by Author "Josifova, D"
Now showing items 1-3 of 3
-
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J (2021) -
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; Grozeva, D; Dewhurst, E; Malka, S (2017-01-05)Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who ... -
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Schon, KR; Horvath, R; Wei, W; Calabrese, C; Tucci, A; Ibanez, K; Ratnaike, T; Pitceathly, RDS; Bugiardini, E; Quinlivan, R (2021)