-
Downie, L, Halliday, J, Lewis, S, Amor, DJ.
Principles of Genomic Newborn Screening Programs.
JAMA Network Open
4(7)
:
e2114336
2021
view publication
-
Consortium, TIMR, Win, AK, Dowty, JG, Reece, JC, Lee, G, Templeton, AS, Plazzer, J-P, Buchanan, DD, Akagi, K, Aksoy, S, et al.
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
The Lancet Oncology
22(7)
:
1014 -1022
2021
view publication
-
Voisin, N, Schnur, RE, Douzgou, S, Hiatt, SM, Rustad, CF, Brown, NJ, Earl, DL, Keren, B, Levchenko, O, Geuer, S, et al.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
American Journal of Human Genetics
108(5)
:
857 -873
2021
view publication
-
Valente, GM, Amor, DJ, Ioannou, LJ, Archibald, AD.
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Australian and New Zealand Journal of Obstetrics and Gynaecology
61(2)
:
232 -238
2021
view publication
-
Brignell, A, Gu, C, Holm, A, Carrigg, B, Sheppard, DA, Amor, DJ, Morgan, AT.
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
European Journal of Human Genetics
29(4)
:
564 -574
2021
view publication