Butler, G, Satkumaran, S, Shanks, J, Segal, A, Kausman, J, Wilkins, E, Elbaum, Y, Buttery, J, Quinlan, C.
Cracking the code: an integrated electronic medical record approach to early diagnosis of genetic kidney disease in children with microscopic haematuria..
Pediatr Nephrol
40(7)
:
2329 -2339
2025
view publication
Hock, DH, Caruana, NJ, Semcesen, LN, Lake, NJ, Formosa, LE, Amarasekera, SSC, Stait, T, Tregoning, S, Frajman, LE, Bournazos, AM, et al.
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases..
Genome Med
17(1)
:
58
2025
view publication
Jayasinghe, K, Biros, E, Harris, T, Wood, A, O'Shea, R, Hill, L, Fowles, L, Wardrop, L, Shalhoub, C, Hahn, D, et al.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years..
Kidney Int Rep
9(8)
:
2372 -2385
2024
view publication
