-
Tatton‐Brown, K, Murray, A, Hanks, S, Douglas, J, Armstrong, R, Banka, S, Bird, LM, Clericuzio, CL, Cormier‐Daire, V, Cushing, T, et al.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
American Journal of Medical Genetics Part A
161(12)
:
2972 -2980
2013
view publication
-
Hewitt, JK, Jayasinghe, Y, Amor, DJ, Gillam, LH, Warne, GL, Grover, S, Zacharin, MR.
Fertility in Turner syndrome.
Clinical Endocrinology
79(5)
:
606 -614
2013
view publication
-
Roscioli, T, Elakis, G, Cox, TC, Moon, DJ, Venselaar, H, Turner, AM, Le, T, Hackett, E, Haan, E, Colley, A, et al.
Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients.
American Journal of Medical Genetics Part C Seminars in Medical Genetics
163(4)
:
259 -270
2013
view publication
-
Sinnerbrink, IB, Sherwen, A, Meiser, B, Halliday, J, Amor, DJ, Waters, E, Rea, F, Evans, E, Rahman, B, Kirk, EP.
Long‐term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement.
Prenatal Diagnosis
33(9)
:
831 -838
2013
view publication
-
McGillivray, G, Bruno, D, Slater, H, Amor, D.
Authors' response to: Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants.
BJOG An International Journal of Obstetrics & Gynaecology
120(10)
:
1297 -1297
2013
view publication