Publications by authors named "Karin S Kassahn"

35Publications

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.

1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.

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http://dx.doi.org/10.1038/s41525-019-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110PMC
November 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Hypermutation In Pancreatic Cancer.

Gastroenterology 2017 01 15;152(1):68-74.e2. Epub 2016 Nov 15.

Wolfson Wohl Cancer Research Centre, Institute of Cancer Sciences, University of Glasgow, Glasgow, Scotland, United Kingdom; Department of Surgery, Bankstown Hospital, Bankstown, Sydney, New South Wales, Australia; South Western Sydney Clinical School, Faculty of Medicine, University of New South Wales Australia, Liverpool, New South Wales, Australia; West of Scotland Pancreatic Unit, Glasgow Royal Infirmary, Glasgow, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00165085163518
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http://dx.doi.org/10.1053/j.gastro.2016.09.060DOI Listing
January 2017

Genomic analyses identify molecular subtypes of pancreatic cancer.

Authors:
Peter Bailey David K Chang Katia Nones Amber L Johns Ann-Marie Patch Marie-Claude Gingras David K Miller Angelika N Christ Tim J C Bruxner Michael C Quinn Craig Nourse L Charles Murtaugh Ivon Harliwong Senel Idrisoglu Suzanne Manning Ehsan Nourbakhsh Shivangi Wani Lynn Fink Oliver Holmes Venessa Chin Matthew J Anderson Stephen Kazakoff Conrad Leonard Felicity Newell Nick Waddell Scott Wood Qinying Xu Peter J Wilson Nicole Cloonan Karin S Kassahn Darrin Taylor Kelly Quek Alan Robertson Lorena Pantano Laura Mincarelli Luis N Sanchez Lisa Evers Jianmin Wu Mark Pinese Mark J Cowley Marc D Jones Emily K Colvin Adnan M Nagrial Emily S Humphrey Lorraine A Chantrill Amanda Mawson Jeremy Humphris Angela Chou Marina Pajic Christopher J Scarlett Andreia V Pinho Marc Giry-Laterriere Ilse Rooman Jaswinder S Samra James G Kench Jessica A Lovell Neil D Merrett Christopher W Toon Krishna Epari Nam Q Nguyen Andrew Barbour Nikolajs Zeps Kim Moran-Jones Nigel B Jamieson Janet S Graham Fraser Duthie Karin Oien Jane Hair Robert Grützmann Anirban Maitra Christine A Iacobuzio-Donahue Christopher L Wolfgang Richard A Morgan Rita T Lawlor Vincenzo Corbo Claudio Bassi Borislav Rusev Paola Capelli Roberto Salvia Giampaolo Tortora Debabrata Mukhopadhyay Gloria M Petersen Donna M Munzy William E Fisher Saadia A Karim James R Eshleman Ralph H Hruban Christian Pilarsky Jennifer P Morton Owen J Sansom Aldo Scarpa Elizabeth A Musgrove Ulla-Maja Hagbo Bailey Oliver Hofmann Robert L Sutherland David A Wheeler Anthony J Gill Richard A Gibbs John V Pearson Nicola Waddell Andrew V Biankin Sean M Grimmond

Nature 2016 Mar 24;531(7592):47-52. Epub 2016 Feb 24.

Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, Queensland 4072, Australia.

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http://dx.doi.org/10.1038/nature16965DOI Listing
March 2016

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

Am J Med Genet A 2015 Nov 20;167A(11):2697-701. Epub 2015 Aug 20.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37161DOI Listing
November 2015

Whole-genome characterization of chemoresistant ovarian cancer.

Nature 2015 May;521(7553):489-94

1] Peter MacCallum Cancer Centre, East Melbourne, Victoria 3002, Australia [2] Department of Pathology, University of Melbourne, Parkville, Victoria 3052, Australia [3] Sir Peter MacCallum Cancer Centre Department of Oncology, University of Melbourne, Parkville, Victoria 3052, Australia [4] Ovarian Cancer Action Research Centre, Department of Surgery and Cancer, Imperial College London, London W12 0HS, UK [5] Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1038/nature14410DOI Listing
May 2015

Whole genomes redefine the mutational landscape of pancreatic cancer.

Nature 2015 Feb;518(7540):495-501

1] Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, Queensland 4072, Australia [2] Wolfson Wohl Cancer Research Centre, Institute of Cancer Sciences, University of Glasgow, Garscube Estate, Switchback Road, Bearsden, Glasgow G61 1BD, UK.

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http://dx.doi.org/10.1038/nature14169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4523082PMC
February 2015

Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.

Hum Mutat 2014 Apr 6;35(4):413-23. Epub 2014 Mar 6.

Genetic and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, 5006, Australia; School of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia, 5000, Australia.

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http://dx.doi.org/10.1002/humu.22525DOI Listing
April 2014

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

Genome Med 2013 31;5(8):78. Epub 2013 Aug 31.

Kinghorn Cancer Centre and Garvan Institute of Medical Research, Darlinghurst, Sydney, Australia ; Wolfson Wohl Cancer Research Centre, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK ; West of Scotland Pancreatic Unit, Glasgow Royal Infirmary, Glasgow, UK.

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http://dx.doi.org/10.1186/gm482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978667PMC
May 2014

Cerebellar output in zebrafish: an analysis of spatial patterns and topography in eurydendroid cell projections.

Front Neural Circuits 2013 1;7:53. Epub 2013 Apr 1.

School of Biomedical Sciences, The University of Queensland Brisbane, QLD, Australia.

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http://dx.doi.org/10.3389/fncir.2013.00053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612595PMC
May 2014

Complex evolutionary relationships among four classes of modular RNA-binding splicing regulators in eukaryotes: the hnRNP, SR, ELAV-like and CELF proteins.

J Mol Evol 2012 Dec 24;75(5-6):214-28. Epub 2012 Nov 24.

School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1007/s00239-012-9533-0DOI Listing
December 2012

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.

Authors:
Andrew V Biankin Nicola Waddell Karin S Kassahn Marie-Claude Gingras Lakshmi B Muthuswamy Amber L Johns David K Miller Peter J Wilson Ann-Marie Patch Jianmin Wu David K Chang Mark J Cowley Brooke B Gardiner Sarah Song Ivon Harliwong Senel Idrisoglu Craig Nourse Ehsan Nourbakhsh Suzanne Manning Shivangi Wani Milena Gongora Marina Pajic Christopher J Scarlett Anthony J Gill Andreia V Pinho Ilse Rooman Matthew Anderson Oliver Holmes Conrad Leonard Darrin Taylor Scott Wood Qinying Xu Katia Nones J Lynn Fink Angelika Christ Tim Bruxner Nicole Cloonan Gabriel Kolle Felicity Newell Mark Pinese R Scott Mead Jeremy L Humphris Warren Kaplan Marc D Jones Emily K Colvin Adnan M Nagrial Emily S Humphrey Angela Chou Venessa T Chin Lorraine A Chantrill Amanda Mawson Jaswinder S Samra James G Kench Jessica A Lovell Roger J Daly Neil D Merrett Christopher Toon Krishna Epari Nam Q Nguyen Andrew Barbour Nikolajs Zeps Nipun Kakkar Fengmei Zhao Yuan Qing Wu Min Wang Donna M Muzny William E Fisher F Charles Brunicardi Sally E Hodges Jeffrey G Reid Jennifer Drummond Kyle Chang Yi Han Lora R Lewis Huyen Dinh Christian J Buhay Timothy Beck Lee Timms Michelle Sam Kimberly Begley Andrew Brown Deepa Pai Ami Panchal Nicholas Buchner Richard De Borja Robert E Denroche Christina K Yung Stefano Serra Nicole Onetto Debabrata Mukhopadhyay Ming-Sound Tsao Patricia A Shaw Gloria M Petersen Steven Gallinger Ralph H Hruban Anirban Maitra Christine A Iacobuzio-Donahue Richard D Schulick Christopher L Wolfgang Richard A Morgan Rita T Lawlor Paola Capelli Vincenzo Corbo Maria Scardoni Giampaolo Tortora Margaret A Tempero Karen M Mann Nancy A Jenkins Pedro A Perez-Mancera David J Adams David A Largaespada Lodewyk F A Wessels Alistair G Rust Lincoln D Stein David A Tuveson Neal G Copeland Elizabeth A Musgrove Aldo Scarpa James R Eshleman Thomas J Hudson Robert L Sutherland David A Wheeler John V Pearson John D McPherson Richard A Gibbs Sean M Grimmond

Nature 2012 Nov 24;491(7424):399-405. Epub 2012 Oct 24.

The Kinghorn Cancer Centre, 370 Victoria Street, Darlinghurst, Sydney, New South Wales 2010, Australia.

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http://dx.doi.org/10.1038/nature11547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530898PMC
November 2012

The mammalian PYHIN gene family: phylogeny, evolution and expression.

BMC Evol Biol 2012 Aug 7;12:140. Epub 2012 Aug 7.

The University of Queensland, School of Chemistry and Molecular Biosciences, Brisbane, Qld 4072, Australia.

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http://dx.doi.org/10.1186/1471-2148-12-140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458909PMC
August 2012

PINA v2.0: mining interactome modules.

Nucleic Acids Res 2012 Jan 8;40(Database issue):D862-5. Epub 2011 Nov 8.

Cancer Research Program, Peter Wills Bioinformatics Centre, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkr967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244997PMC
January 2012

Mineralocorticoid receptors: evolutionary and pathophysiological considerations.

Endocrinology 2011 May 22;152(5):1883-90. Epub 2011 Feb 22.

Institute for Molecular Bioscience and Australian Research Council Centre of Excellence in Bioinformatic, University of Queensland, Brisbane, Queensland 4072, Australia.

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http://dx.doi.org/10.1210/en.2010-1444DOI Listing
May 2011

Sequencing transcriptomes in toto.

Integr Biol (Camb) 2011 May 4;3(5):522-8. Epub 2011 Feb 4.

Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, Brisbane, Australia.

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http://dx.doi.org/10.1039/c0ib00062kDOI Listing
May 2011

Functional implications of the emergence of alternative splicing in hnRNP A/B transcripts.

RNA 2010 Sep 22;16(9):1760-8. Epub 2010 Jul 22.

School of Chemistry and Molecular Biosciences, The University of Queensland, St. Lucia, QLD 4072, Australia.

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http://dx.doi.org/10.1261/rna.2142810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924535PMC
September 2010

A visual framework for sequence analysis using n-grams and spectral rearrangement.

Bioinformatics 2010 Mar 3;26(6):737-44. Epub 2010 Feb 3.

Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.

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http://dx.doi.org/10.1093/bioinformatics/btq042DOI Listing
March 2010

Evolution of gene function and regulatory control after whole-genome duplication: comparative analyses in vertebrates.

Genome Res 2009 Aug 13;19(8):1404-18. Epub 2009 May 13.

The University of Queensland, Institute for Molecular Bioscience and ARC Centre of Excellence in Bioinformatics, QLD, Australia.

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http://dx.doi.org/10.1101/gr.086827.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720184PMC
August 2009

Animal performance and stress: responses and tolerance limits at different levels of biological organisation.

Biol Rev Camb Philos Soc 2009 May 11;84(2):277-92. Epub 2009 Mar 11.

School of Marine and Tropical Biology, James Cook University, Townsville, QLD 4811, Australia.

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http://doi.wiley.com/10.1111/j.1469-185X.2008.00073.x
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http://dx.doi.org/10.1111/j.1469-185X.2008.00073.xDOI Listing
May 2009

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.

Eur J Hum Genet 2008 Nov 4;16(11):1350-7. Epub 2008 Jun 4.

ARC Centre of Excellence in Bioinformatics, Brisbane, Queensland, Australia.

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http://www.nature.com/articles/ejhg2008111
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http://dx.doi.org/10.1038/ejhg.2008.111DOI Listing
November 2008

From transcriptome to biological function: environmental stress in an ectothermic vertebrate, the coral reef fish Pomacentrus moluccensis.

BMC Genomics 2007 Oct 5;8:358. Epub 2007 Oct 5.

School of Marine and Tropical Biology, James Cook University, Townsville, QLD 4811, Australia.

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http://dx.doi.org/10.1186/1471-2164-8-358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222645PMC
October 2007

Heterologous microarray experiments used to identify the early gene response to heat stress in a coral reef fish.

Mol Ecol 2007 Apr;16(8):1749-63

School of Tropical Biology, James Cook University, Townsville, Qld 4811, Australia.

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http://dx.doi.org/10.1111/j.1365-294X.2006.03178.xDOI Listing
April 2007