Peter Georgeson
Peter Georgeson
Verified email at unimelb.edu.au - Homepage
TitleCited byYear
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
1392016
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
932017
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
252017
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
202016
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
182017
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
32016
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
22017
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
12018
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
12016
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
P Georgeson, MD Walsh, M Clendenning, S Daneshvar, BJ Pope, ...
Molecular genetics & genomic medicine, e781, 2019
2019
Sebaceous skin lesions and Lynch Syndrome, a definitive study
D Buchanan, M Walsh, M Clendenning, K Mahmood, P Georgeson, ...
AUSTRALASIAN JOURNAL OF DERMATOLOGY 60, 9-9, 2019
2019
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
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
2017
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