Publications by authors named "Sebastian Lunke"

48Publications

Rapid Identification of Biallelic Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.

Mol Syndromol 2020 Feb 1;11(1):50-55. Epub 2020 Feb 1.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1159/000505886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109415PMC
February 2020

Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.

Pediatr Pulmonol 2020 04 14;55(4):855-857. Epub 2020 Feb 14.

Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ppul.24686DOI Listing
April 2020

Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.

Clin Case Rep 2019 Dec 12;7(12):2476-2482. Epub 2019 Nov 12.

Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia.

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http://dx.doi.org/10.1002/ccr3.2511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606PMC
December 2019

IREB2-associated neurodegeneration.

Brain 2019 08;142(8):e40

Murdoch Children's Research Institute, Flemington Rd, Parkville, Australia.

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http://dx.doi.org/10.1093/brain/awz183DOI Listing
August 2019

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

Intratumorous heterogeneity for RAS mutations in a treatment-naïve colorectal tumour.

J Clin Pathol 2017 Aug 17;70(8):720-723. Epub 2017 Mar 17.

Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1136/jclinpath-2017-204327DOI Listing
August 2017

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Epilepsy Res 2017 03 7;131:1-8. Epub 2017 Feb 7.

Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.001DOI Listing
March 2017

The feasibility of molecular testing on cell blocks created from brush tip washings in the assessment of peripheral lung lesions.

J Thorac Dis 2016 Sep;8(9):2551-2555

Department of Respiratory Medicine, Royal Melbourne Hospital, Melbourne, Australia;; Department of Medicine, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.21037/jtd.2016.08.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059285PMC
September 2016

Response to Cetuximab With or Without Irinotecan in Patients With Refractory Metastatic Colorectal Cancer Harboring the KRAS G13D Mutation: Australasian Gastro-Intestinal Trials Group ICECREAM Study.

J Clin Oncol 2016 07 25;34(19):2258-64. Epub 2016 Apr 25.

Eva Segelov, St Vincent's Clinical School, University of New South Wales; Subotheni Thavaneswaran, Kristy P. Robledo, Val J. Gebski, Mustafa Khasraw, Kate Wilson, and John Simes, National Health and Medical Research Council Clinical Trials Centre (NHMRC), University of Sydney; Lorraine A. Chantrill, Macarthur Cancer Therapy Centre, Campbelltown Hospital and Kinghorn Cancer Centre; Nick Pavlakis and Mustafa Khasraw, Royal North Shore Hospital University of Sydney, Sydney; Paul M. Waring and Sebastian Lunke, Centre for Translational Pathology, University of Melbourne; Jayesh Desai, Royal Melbourne Hospital; Jayesh Desai and Michael Jefford, Peter MacCallum Cancer Centre; Andrew Haydon, Alfred Hospital; Jeremy D. Shapiro, Cabrini Hospital, Melbourne; Louise M. Nott, Royal Hobart Hospital, Hobart; Christos S. Karapetis, Flinders University and Flinders Medical Centre; Timothy J. Price, Queen Elizabeth Hospital and Lyell McEwin Hospital, Adelaide; Craig Underhill, Border Medical Oncology, Albury-Wodonga; Guy van Hazel, Sir Charles Gairdner Hospital, Perth, Australia; Elena Elez, Vall d'Hebron University Hospital, Barcelona, Spain; Fortunato Ciardiello, Seconda Università degli Studi di Napoli, Naples, Italy; and Harpreet Wasan, Hammersmith Hospital, London, United Kingdom.

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http://dx.doi.org/10.1200/JCO.2015.65.6843DOI Listing
July 2016

Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Genome Med 2015 10;7(1):68. Epub 2015 Jul 10.

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Walter and Eliza Hall Institute, Parkville, VIC 3052 Australia.

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http://dx.doi.org/10.1186/s13073-015-0191-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515933PMC
July 2015

AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.

Hum Mutat 2015 Apr 16;36(4):411-8. Epub 2015 Mar 16.

Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.22763DOI Listing
April 2015

Vascular histone deacetylation by pharmacological HDAC inhibition.

Genome Res 2014 Aug 14;24(8):1271-84. Epub 2014 Apr 14.

Baker IDI Heart and Diabetes Institute, Melbourne, Victoria 3004, Australia; Department of Pathology, The University of Melbourne, Parkville, Victoria 3010, Australia; Faculty of Medicine, Monash University, Victoria 3800, Australia

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http://dx.doi.org/10.1101/gr.168781.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120081PMC
August 2014

Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.

Neurotherapeutics 2013 Oct;10(4):677-87

Epigenetics in Human Health and Disease Laboratory, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, Melbourne, VIC, 3004, Australia.

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http://dx.doi.org/10.1007/s13311-013-0209-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805858PMC
October 2013

Exploring the utility of human DNA methylation arrays for profiling mouse genomic DNA.

Genomics 2013 Jul 29;102(1):38-46. Epub 2013 Apr 29.

Cancer and Disease Epigenetics Group, Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.ygeno.2013.04.014DOI Listing
July 2013

Genome-wide analysis distinguishes hyperglycemia regulated epigenetic signatures of primary vascular cells.

Genome Res 2011 Oct 2;21(10):1601-15. Epub 2011 Sep 2.

Epigenetics in Human Health and Disease Laboratory, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, Melbourne, Victoria 3004, Australia.

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http://dx.doi.org/10.1101/gr.116095.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202278PMC
October 2011

Combining target enrichment with barcode multiplexing for high throughput SNP discovery.

BMC Genomics 2010 Nov 18;11:641. Epub 2010 Nov 18.

Baker IDI Heart and Diabetes Institute, Melbourne, Australia.

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http://dx.doi.org/10.1186/1471-2164-11-641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012606PMC
November 2010

The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy.

J Neurochem 2009 Jun 4;109(6):1557-69. Epub 2009 Apr 4.

Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, The Alfred Medical Research and Education Precinct, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1471-4159.2009.06084.xDOI Listing
June 2009