Ann-Marie Patch
Ann-Marie Patch
Clinical Genomics Team Head, QIMR Berghofer Medical Research Institute
Verified email at
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A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
TM Frayling, NJ Timpson, MN Weedon, E Zeggini, RM Freathy, ...
Science 316 (5826), 889-894, 2007
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
AV Biankin, N Waddell, KS Kassahn, MC Gingras, LB Muthuswamy, ...
Nature 491 (7424), 399-405, 2012
Whole genomes redefine the mutational landscape of pancreatic cancer
N Waddell, M Pajic, AM Patch, DK Chang, KS Kassahn, P Bailey, ...
Nature 518 (7540), 495-501, 2015
Genomic analyses identify molecular subtypes of pancreatic cancer
P Bailey, DK Chang, K Nones, AL Johns, AM Patch, MC Gingras, ...
Nature 531 (7592), 47-52, 2016
Whole–genome characterization of chemoresistant ovarian cancer
AM Patch, EL Christie, D Etemadmoghadam, DW Garsed, J George, ...
Nature 521 (7553), 489-494, 2015
Insulin gene mutations as a cause of permanent neonatal diabetes
J St°y, EL Edghill, SE Flanagan, H Ye, VP Paz, A Pluzhnikov, JE Below, ...
Proceedings of the National Academy of Sciences 104 (38), 15040-15044, 2007
Whole-genome landscapes of major melanoma subtypes
NK Hayward, JS Wilmott, N Waddell, PA Johansson, MA Field, K Nones, ...
Nature 545 (7653), 175-180, 2017
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed iná…
EL Edghill, SE Flanagan, AM Patch, C Boustred, A Parrish, B Shields, ...
Diabetes 57 (4), 1034-1042, 2008
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL Gloyn, D Robinson, ...
Diabetes 56 (7), 1930-1937, 2007
Whole-genome landscape of pancreatic neuroendocrine tumours
A Scarpa, DK Chang, K Nones, V Corbo, AM Patch, P Bailey, RT Lawlor, ...
Nature 543 (7643), 65-71, 2017
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
SE Flanagan, AM Patch, S Ellard
Genetic testing and molecular biomarkers 14 (4), 533-537, 2010
Rfx6 directs islet formation and insulin production in mice and humans
SB Smith, HQ Qu, N Taleb, NY Kishimoto, DW Scheel, Y Lu, AM Patch, ...
Nature 463 (7282), 775-780, 2010
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
O Rubio‐Cabezas, V Puri, I Murano, V Saudek, RK Semple, S Dash, ...
EMBO molecular medicine 1 (5), 280-287, 2009
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
M Rafiq, SE Flanagan, AM Patch, BM Shields, S Ellard, AT Hattersley, ...
Diabetes care 31 (2), 204-209, 2008
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
TS Alioto, I Buchhalter, S Derdak, B Hutter, MD Eldridge, E Hovig, ...
Nature communications 6 (1), 1-13, 2015
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
MN Weedon, I Cebola, AM Patch, SE Flanagan, E De Franco, R Caswell, ...
Nature genetics 46 (1), 61-64, 2014
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
S Ellard, SE Flanagan, CA Girard, AM Patch, LW Harries, A Parrish, ...
The American Journal of Human Genetics 81 (2), 375-382, 2007
Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis
K Nones, N Waddell, N Wayte, AM Patch, P Bailey, F Newell, O Holmes, ...
Nature communications 5 (1), 1-9, 2014
Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance
M Secrier, X Li, N De Silva, MD Eldridge, G Contino, J Bornschein, ...
Nature genetics 48 (10), 1131-1141, 2016
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
I Garin, EL Edghill, I Akerman, O Rubio-Cabezas, I Rica, JM Locke, ...
Proceedings of the National Academy of Sciences 107 (7), 3105-3110, 2010
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