|A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders|
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in Medicine 18 (11), 1090, 2016
|Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions|
TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ...
JAMA pediatrics 171 (9), 855-862, 2017
|Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics|
K Mahmood, C Jung, G Philip, P Georgeson, J Chung, BJ Pope, DJ Park
Human genomics 11 (1), 10, 2017
|Melbourne Genomics Health Alliance. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders|
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh
Genet Med 18 (11), 1090-1096, 2016
|Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy|
M Walsh, KM Bell, B Chong, E Creed, GR Brett, K Pope, NP Thorne, ...
Annals of clinical and translational neurology 4 (5), 318-325, 2017
|UNDR ROVER-a fast and accurate variant caller for targeted DNA sequencing|
DJ Park, R Li, E Lau, P Georgeson, T Nguyen-Dumont, BJ Pope
BMC bioinformatics 17 (1), 165, 2016
|An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX|
T Mattiske, C Moey, LE Vissers, N Thorne, P Georgeson, M Bakshi, ...
Human mutation 38 (5), 548-555, 2017
|Fine resolution mapping of double-strand break sites for human ribosomal DNA units|
BJ Pope, K Mahmood, C Jung, DJ Park
Genomics data 10, 19-21, 2016
|Annotation of the Giardia proteome through structure-based homology and machine learning|
BRE Ansell, BJ Pope, P Georgeson, SJ Emery-Corbin, AR Jex
GigaScience 8 (1), giy150, 2018
|sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data|
CH Jung, D Park, P Georgeson, K Mahmood, R Milne, M Southey, B Pope
International journal of molecular sciences 19 (10), 3172, 2018
|Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells|
BJ Pope, K Mahmood, C Jung, P Georgeson, DJ Park
Genomics data 11, 43-45, 2017