Turbitt, E, Wiest, MM, Halliday, JL, Amor, DJ, Metcalfe, SA. Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.. Eur J Hum Genet 22(10) : 1225 -1228 2014
view publication
Bancroft, EK, Page, EC, Castro, E, Lilja, H, Vickers, A, Sjoberg, D, Assel, M, Foster, CS, Mitchell, G, Drew, K, et al. Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.. Eur Urol 66(3) : 489 -499 2014
view publication
Smith, KR, Leventer, RJ, Mackay, MT, Pope, K, Gillies, G, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ. Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.. Int J Stroke 9(6) : E26 -E27 2014
view publication
Navarro, CL, Esteves-Vieira, V, Courrier, S, Boyer, A, Duong Nguyen, T, Huong, LTT, Meinke, P, Schröder, W, Cormier-Daire, V, Sznajer, Y, et al. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.. Eur J Hum Genet 22(8) : 1002 -1011 2014
view publication
Inaba, Y, Schwartz, CE, Bui, QM, Li, X, Skinner, C, Field, M, Wotton, T, Hagerman, RJ, Francis, D, Amor, DJ, et al. Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.. Clin Chem 60(7) : 963 -973 2014
view publication