-
Tan, NB, Stapleton, R, Stark, Z, Delatycki, MB, Yeung, A, Hunter, MF, Amor, DJ, Brown, NJ, Stutterd, CA, McGillivray, G, et al.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review..
Mol Genet Genomic Med
8(11)
:
e1508
2020
view publication
-
Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, de Silva, MG, et al.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Obstetrical & Gynecological Survey
75(11)
:
662 -664
2020
view publication
-
Baker, EK, Butler, MG, Hartin, SN, Ling, L, Bui, M, Francis, D, Rogers, C, Field, MJ, Slee, J, Gamage, D, et al.
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders..
Transl Psychiatry
10(1)
:
362
2020
view publication
-
Kraan, CM, Baker, EK, Arpone, M, Bui, M, Ling, L, Gamage, D, Bretherton, L, Rogers, C, Field, MJ, Wotton, TL, et al.
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome..
Int J Mol Sci
21(20)
:
2020
view publication
-
Ma, A, Yousoof, S, Grigg, JR, Flaherty, M, Minoche, AE, Cowley, MJ, Nash, BM, Ho, G, Gayagay, T, Lai, T, et al.
Revealing hidden genetic diagnoses in the ocular anterior segment disorders..
Genet Med
22(10)
:
1623 -1632
2020
view publication