Peter Georgeson
Peter Georgeson
Verified email at unimelb.edu.au - Homepage
Title
Cited by
Cited by
Year
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), 1090-1096, 2016
2602016
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
1872017
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), 1-8, 2017
532017
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, A Yeung, H Peters, ...
Genet Med 18 (11), 1090-1096, 2016
362016
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
292017
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, 2019
162019
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival
SH Zaidi, TA Harrison, AI Phipps, R Steinfelder, QM Trinh, C Qu, ...
Nature communications 11 (1), 1-12, 2020
82020
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
72017
Monoallelic NTHL1 loss-of-function variants and risk of polyposis and colorectal cancer
FA Elsayed, JE Grolleman, A Ragunathan, A Boot, MS Stojovska, ...
Gastroenterology 159 (6), 2241-2243. e6, 2020
62020
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 7 (7), e00781, 2019
62019
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers
P Georgeson, BJ Pope, C Rosty, M Clendenning, K Mahmood, JE Joo, ...
Gut, 2021
32021
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), 1-7, 2016
32016
sEst: accurate sex-estimation and abnormality detection in methylation microarray data
CH Jung, DJ Park, P Georgeson, K Mahmood, RL Milne, MC Southey, ...
International journal of molecular sciences 19 (10), 3172, 2018
22018
Germline and tumor sequencing as a diagnostic tool to resolve suspected Lynch syndrome
BJ Pope, M Clendenning, C Rosty, K Mahmood, P Georgeson, JE Joo, ...
The Journal of Molecular Diagnostics 23 (3), 358-371, 2021
12021
Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software
P Georgeson, A Syme, C Sloggett, J Chung, H Dashnow, M Milton, ...
GigaScience 8 (9), giz109, 2019
12019
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
MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer
P McCoy, S Mangiola, G Macintyre, R Hutchinson, B Tran, B Pope, ...
Prostate Cancer and Prostatic Diseases, 1-14, 2021
2021
DNA methylation signatures and the contribution of age-associated methylomic drift to carcinogenesis in early-onset colorectal cancer
JE Joo, M Clendenning, EM Wong, C Rosty, K Mahmood, P Georgeson, ...
Cancers 13 (11), 2589, 2021
2021
Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome
BJ Pope, M Clendenning, C Rosty, K Mahmood, P Georgeson, JE Joo, ...
medRxiv, 2020
2020
The Clinical Utility of Tumour Mutational Signatures for Identifying Hereditary Colorectal Cancer and Polyposis Syndromes
D Buchanan, P Georgeson, M Clendenning, K Mahmood, A Ragunathan, ...
JOURNAL OF MOLECULAR DIAGNOSTICS 21 (3), S2-S3, 2019
2019
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Articles 1–20