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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
3192016
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
2412017
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
682017
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
382017
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
282020
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
212019
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, 1090-1096, 2016
132016
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 70 (11), 2138-2149, 2021
122021
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
122020
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
92017
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
82019
Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome …
RP Baptista, Y Li, A Sateriale, MJ Sanders, KL Brooks, A Tracey, ...
Genome research 32 (1), 203-213, 2022
62022
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
62019
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
42021
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
42018
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
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
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
P Georgeson, TA Harrison, BJ Pope, SH Zaidi, C Qu, RS Steinfelder, ...
Nature Communications 13 (1), 1-12, 2022
12022
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 24 (4), 1167-1180, 2021
12021
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
12020
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