-
Kaiser, FJ, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, JJ, Fincher, CT, Kaur, M, Bando, M, Amor, DJ, et al.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance..
Hum Mol Genet
23(11)
:
2888 -2900
2014
view publication
-
Wilson, GR, Sunley, J, Smith, KR, Pope, K, Bromhead, CJ, Fitzpatrick, E, Di Rocco, M, van Steensel, M, Coman, DJ, Leventer, RJ, et al.
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome..
Eur J Hum Genet
22(6)
:
741 -747
2014
view publication
-
Godler, DE, Amor, DJ, Slater, HR.
Methylation analysis in newborn screening for fragile X syndrome..
JAMA Neurol
71(6)
:
800
2014
view publication
-
Sinnerbrink, IB, Meiser, B, Halliday, J, Sherwen, A, Amor, DJ, Waters, E, Rea, F, Evans, E, Rahman, B, Kirk, EP.
Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure..
Prenat Diagn
34(6)
:
598 -604
2014
view publication
-
Charles, T, Pitt, J, Halliday, J, Amor, DJ.
Implementation of written consent for newborn screening in Victoria, Australia..
J Paediatr Child Health
50(5)
:
399 -404
2014
view publication