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Author Details

Karin S Kassahn
Adelaide Medical School, The University of Adelaide
2007
42
24
PMIDPaper TitleJournal TitlePublished Year
37209493Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.Neuromuscul Disord2023
37291213Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nat Med2023
37213117Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.JAMA Neurol2023
36332611Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Am J Hum Genet2022
35578795The clinical and genetic features of hereditary pancreatitis in South Australia.Med J Aust2022
34287141Whole-Genome Sequencing of SARS-CoV-2 from Quarantine Hotel Outbreak.Emerg Infect Dis2021
31754459Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.NPJ Genom Med2019
29656860Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.Am J Hum Genet2018
27856273Hypermutation In Pancreatic Cancer.Gastroenterology2017
28454591Lost in translation: returning germline genetic results in genome-scale cancer research.Genome Med2017
26909576Genomic analyses identify molecular subtypes of pancreatic cancer.Nature2016
27821113Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.BMC Endocr Disord2016
25719666Whole genomes redefine the mutational landscape of pancreatic cancer.Nature2015
26503049Corrigendum: Whole-genome characterization of chemoresistant ovarian cancer.Nature2015
26289840Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.Am J Med Genet A2015
26172396Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance.J Pathol2015
26017449Whole-genome characterization of chemoresistant ovarian cancer.Nature2015
24500968Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.Int J Cancer2014
25005691A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing.Biotechniques2014
24963353Returning individual research results for genome sequences of pancreatic cancer.Genome Med2014
24510514Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.Hum Mutat2014
23554587Cerebellar output in zebrafish: an analysis of spatial patterns and topography in eurydendroid cell projections.Front Neural Circuits2013
24250782Somatic point mutation calling in low cellularity tumors.PLoS One2013
23900255Computational approaches to identify functional genetic variants in cancer genomes.Nat Methods2013
24004612Clinical and molecular characterization of HER2 amplified-pancreatic cancer.Genome Med2013
22067443PINA v2.0: mining interactome modules.Nucleic Acids Res2012
23179353Complex evolutionary relationships among four classes of modular RNA-binding splicing regulators in eukaryotes: the hnRNP, SR, ELAV-like and CELF proteins.J Mol Evol2012
23049875qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles.PLoS One2012
23103869Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.Nature2012
22871040The mammalian PYHIN gene family: phylogeny, evolution and expression.BMC Evol Biol2012
22421440Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma.Proc Natl Acad Sci U S A2012
21343255Mineralocorticoid receptors: evolutionary and pathophysiological considerations.Endocrinology2011
22208850MicroRNAs and their isomiRs function cooperatively to target common biological pathways.Genome Biol2011
22042643Deep-transcriptome and ribonome sequencing redefines the molecular networks of pluripotency and the extracellular space in human embryonic stem cells.Genome Res2011
21298135Sequencing transcriptomes in toto.Integr Biol (Camb)2011
20130028A visual framework for sequence analysis using n-grams and spectral rearrangement.Bioinformatics2010
20651029Functional implications of the emergence of alternative splicing in hnRNP A/B transcripts.RNA2010
19439512Evolution of gene function and regulatory control after whole-genome duplication: comparative analyses in vertebrates.Genome Res2009
19344429Animal performance and stress: responses and tolerance limits at different levels of biological organisation.Biol Rev Camb Philos Soc2009
18523451Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.Eur J Hum Genet2008
17402988Heterologous microarray experiments used to identify the early gene response to heat stress in a coral reef fish.Mol Ecol2007
17916261From transcriptome to biological function: environmental stress in an ectothermic vertebrate, the coral reef fish Pomacentrus moluccensis.BMC Genomics2007
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Collaborators

Sean M Grimmond
The University of Melbourne
Co-authored papers 19
Nicola Waddell
QIMR Berghofer Medical Research Institute
Co-authored papers 18
John V Pearson
QIMR Berghofer Medical Research Institute
Co-authored papers 17
Katia Nones
QIMR Berghofer Medical Research Institute
Co-authored papers 15
Ann-Marie Patch
QIMR Berghofer Medical Research Institute
Co-authored papers 12
J Lynn Fink
The University of Queensland Diamantina Institute, The University of Queensland
Co-authored papers 12
Amber L Johns
Garvan Institute of Medical Research and The Kinghorn Cancer Centre
Co-authored papers 10
Mark J Cowley
Children's Cancer Institute, Lowy Cancer Research Centre
Co-authored papers 9
Nikolajs Zeps
Queensland University of Technology
Co-authored papers 6
Anirban Maitra
The University of Texas MD Anderson Cancer Center
Co-authored papers 4
George Au-Yeung
The University of Melbourne
Co-authored papers 2
Paul Harnett
Westmead Clinical School, University of Sydney
Co-authored papers 2
Kathryn Alsop
Peter MacCallum Cancer Centre
Co-authored papers 2
Ernst Lengyel
University of Chicago
Co-authored papers 2
Huei San Leong
Peter MacCallum Cancer Centre
Co-authored papers 2
David D L Bowtell
Peter MacCallum Cancer Centre
Co-authored papers 2
Lincoln D Stein
University of Toronto
Co-authored papers 2
Anna DeFazio
Westmead Hospital
Co-authored papers 2
Catherine J Kennedy
The Westmead Institute for Medical Research, University of Sydney
Co-authored papers 2
Sian Fereday
Peter MacCallum Cancer Centre
Co-authored papers 2
Ronny Drapkin
University of Pennsylvania School of Medicine
Co-authored papers 2
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
Oliver Hofmann
University of Melbourne
Co-authored papers 2
Maria A Doyle
Peter MacCallum Cancer Centre
Co-authored papers 2
Euan A Stronach
Imperial College London
Co-authored papers 2
Nadia Traficante
Peter MacCallum Cancer Centre
Co-authored papers 2
Yoke-Eng Chiew
Westmead Hospital
Co-authored papers 2
Robert Brown
Ovarian Cancer Action Research Centre, Imperial College London
Co-authored papers 2
Joy Hendley
Peter MacCallum Cancer Centre
Co-authored papers 2
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 2
Release 1.2