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
Hock, DH, Caruana, NJ, Semcesen, LN, Lake, NJ, Formosa, LE, Amarasekera, SSC, Stait, T, Tregoning, S, Frajman, LE, Robinson, DRL, et al.
Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases.
2025
view publication
Haas, MA, Madelli, EO, Brown, R, Prictor, M, Boughtwood, T.
Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort..
Eur J Hum Genet
32(1)
:
61 -68
2024
view publication
Hirst, CE, Major, AT, Ayers, KL, Brown, RJ, Mariette, M, Sackton, TB, Smith, CA.
Sex Reversal and Comparative Data Undermine the W Chromosome and Support Z-linked DMRT1 as the Regulator of Gonadal Sex Differentiation in Birds..
Endocrinology
158(9)
:
2970 -2987
2017
view publication