Sebastian Lunke

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Lisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari Indika Alahakoon, Cheng Yee Nixon, Edwin P Kirk, Tony Roscioli, Sebastian Lunke, Zornitza Stark, Klaas J Wierenga, Sirish Palle, Maie Walsh, Emily Higgs, Susan Arbuckle, Shalini Thirukeswaran, Alison G Compton, David R Thorburn, John Christodoulou

Journal article  |  2020  |  Human Mutation

LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an inf..

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Gemma R Brett, Melissa Martyn, Fiona Lynch, Michelle G de Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah King-Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. METHODS: ..

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L Rehm, David J Amor

Journal article  |  2020  |  European Journal of Human Genetics

Congenital hearing impairment (HI) is the most common sensory impairment and can be isolated or part of a syndrome. Diagnosis thro..

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

Shivanthan Shanthikumar, Ajay Kevat, Rachel Stapleton, Sebastian Lunke, Zornitza Stark, Moya Vandeleur

Journal article  |  2020  |  Pediatric Pulmonology

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J Amor

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce thi..

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Lauren S Akesson, Stefanie Eggers, Clare J Love, Belinda Chong, Emma I Krzesinski, Natasha J Brown, Tiong Y Tan, Christopher M Richmond, David R Thorburn, John Christodoulou, Matthew F Hunter, Sebastian Lunke, Zornitza Stark

Journal article  |  2019  |  European Journal of Human Genetics

Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clin..

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul-Fernandez, Justine E Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J Brown, Chloe Stutterd, Martin B Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara L Gaff, Susan M White

Journal article  |  2019  |  European Journal of Human Genetics

Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including..

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G Stefan, Helena Ahlfors, Robert Kleyner, Alan Rope, Aime Lumaka, Prosper Lukusa, Koenraad Devriendt, Joris Vermeesch, Jennifer E Posey, Elizabeth E Palmer, Lucinda Murray, Eyby Leon, Jullianne Diaz, et al.

Journal article  |  2019  |  Human Mutation

We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pat..

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient

Simranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M White, Carolyn Ellaway, John Christodoulou

Journal article  |  2019  |  CLINICAL CASE REPORTS

A national approach to rapid genomic diagnosis in acute paediatrics

S Lunke, C Patel, M Wilson, J Pinner, SA Sandaradura, D Mowat, E Kirk, MF Hunter, EI Krzesinski, C Barnett, LS Akesson, CM Richmond, S Kumble, NB Tan, A Fennell, J Rogers, M Higgins, A Vasudevan, KB Howell, SM White, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid mitochondrial genome (mtDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care

LS Akesson, S Eggers, CJ Love, B Chong, MF Hunter, EI Krzesinski, NJ Brown, TY Tan, CM Richmond, DR Thorburn, J Christodoulou, Z Stark, S Lunke

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

Zornitza Stark, Amy Nisselle, Belinda McClaren, Fiona Lynch, Stephanie Best, Janet C Long, Melissa Martyn, Chirag Patel, Luregn J Schlapbach, Christopher Barnett, Christiane Theda, Jason Pinner, Marcel E Dinger, Sebastian Lunke, Clara L Gaff

Journal article  |  2019  |  European Journal of Human Genetics

We investigated the attitudes of intensive care physicians and genetics professionals towards rapid genomic testing in neonatal an..

IREB2-associated neurodegeneration

Monica S Cooper, Zornitza Stark, Sebastian Lunke, Teresa Zhao, David J Amor

Journal article  |  2019  |  Brain

Implementing rapid genomic testing in acute paediatric care in Australia

Stephanie Best, Janet C Long, Jeffrey Braithwaite, Natalie Taylor, Belinda Maclaren, Helen Brown, Sebastian Lunke, Zornitza Stark

Conference Proceedings  |  2019  |  IMPLEMENTATION SCIENCE

"Experience is the teacher of all things"- upskilling the genomics workforce in variant interpretation

F Cunningham, S Lunke, TY Tan, M Martyn, E Lynch, SNA Roesley, N Thorne, C Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A novel approach for offering additional findings to patients - separating the decision from diagnostic testing

EL Lynch, M Martyn, A Kanga-Parabia, P James, S Lunke, I Macciocca, M Wallis, MF Hunter, A Trainer, J Halliday, N Brown, L Keogh, J Wale, I Winship, C Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE Study

Olga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, Leakhena Leas, Tiffany Boughtwood, Kathryn Alsop, Giada Zapparoli, Alexander Dobrovic, Yi-An Ko, Arthur L Hsu, Clare J Love, Sebastian Lunke, Matthew J Wakefield, Orla McNally, Michael Quinn, Sumitra Ananda, Deborah Neesham, Anne Hamilton, Marisa Grossi, Alison Freimund, et al.

Journal article  |  2019  |  JCO Precision Oncology

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system

Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Alison H Trainer, Jane Halliday, Louise Keogh, Janney Wale, Ingrid Winship, Michael Bogwitz, Giulia Valente, Maie Walsh, Lilian Downie, David Amor, Mathew Wallis, Fiona Cunningham, Matthew Burgess, Natasha J Brown, Anna Jarmolowicz, et al.

Journal article  |  2019  |  Journal of Genetic Counseling

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Atteeq U Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V Hunter, Zeineb Bakey, Mari J Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin Helmstaedter, et al.

Journal article  |  2019  |  Human Mutation

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

B Schonewolf-Greulich, A-M Bisgaard, RS Moller, M Duno, K Brondum-Nielsen, S Kaur, NJ Van Bergen, S Lunke, S Eggers, C Jespersgaard, J Christodoulou, Z Tumer

Journal article  |  2019  |  Clinical Genetics

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness (vol 21, pg 173, 2018)

Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White

Journal article  |  2019  |  Genetics in Medicine

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White

Journal article  |  2019  |  Genetics in Medicine

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, et al.

Journal article  |  2018  |  Genetics in Medicine

PITFALLS OF IMMUNOTHERAPY: LESSONS FROM A PATIENT WITH CTLA-4 HAPLOINSUFFICIENCY

Leisa R Watson, Charlotte A Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Z Stark, Matthew F Hunter, Vanessa L Bryant, Michael SY Low

Conference Proceedings  |  2018  |  INTERNAL MEDICINE JOURNAL

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

Leisa Rebecca Watson, Charlotte A Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Vanessa L Bryant, Michael Sze Yuan Low

Journal article  |  2018  |  Allergy, Asthma & Clinical Immunology

Australian Ovarian Cancer Assortment Trial-Allocating ovarian cancer patients into clinical trials based on molecular profiling.

Olga Kondrashova, George Au-Yeung, Leakhena Leas, Gwo-Yaw Ho, Sebastian Lunke, Kathryn Alsop, Clare Scott, Anne Hamilton, Sumitra Ananda, Alison Freimund, Michael Quinn, Orla McNally, Nadia Traficante, Tiffany Cowie, Matthew Wakefield, Arthur Hsu, Alex Dobrovic, Michael Christie, Graham Taylor, David Bowtell, et al.

Conference Proceedings  |  2018  |  CLINICAL CANCER RESEARCH

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

Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu

Journal article  |  2018  |  Seminars in Pediatric Neurology

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan

Journal article  |  2018  |  European Journal of Human Genetics

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Zornitza Stark, Harriet Dashnow, Sebastian Lunke, Tiong Y Tan, Alison Yeung, Simon Sadedin, Natalie Thorne, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Susan M White, Paul A James

Journal article  |  2017  |  European Journal of Human Genetics

Circulating tumour cells from patients with colorectal cancer have cancer stem cell hallmarks in ex vivo culture

Fanny Grillet, Elsa Bayet, Olivia Villeronce, Luke Zappia, Ebba Louise Lagerqvist, Sebastian Lunke, Emmanuelle Charafe-Jauffret, Kym Pham, Christina Molck, Nathalie Rolland, Jean Francois Bourgaux, Michel Prudhomme, Claire Philippe, Sophie Bravo, Jean Christophe Boyer, Lucile Canterel-Thouennon, Graham Roy Taylor, Arthur Hsu, Jean Marc Pascussi, Frederic Hollande, et al.

Journal article  |  2017  |  GUT

Intratumorous heterogeneity for RAS mutations in a treatment-naive colorectal tumour

Sebastian Lunke, Belinda Lee, Sevastjan Kranz, Peter Gibbs, Paul Waring, Michael Christie

Journal article  |  2017  |  Journal of Clinical Pathology

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice LR Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, et al.

Journal article  |  2017  |  Brain

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

Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan

Journal article  |  2017  |  Epilepsy Research

Examining the impact of regular aspirin use and PIK3CA mutations on survival in stage 2 colon cancer

Caitlin Murphy, Natalie Turner, Hui-Li Wong, Mathu Sinnathamby, Jeanne Tie, Belinda Lee, Jayesh Desai, Iain Skinner, Michael Christie, Ryan Hutchinson, Sebastian Lunke, Paul Waring, Peter Gibbs, Tran Ben

Journal article  |  2017  |  Internal Medicine Journal

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

Lilian Downie, Jane L Halliday, Rachel A Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew Hunter, Kerryn Saunders, Elizabeth Rose, Heidi L Rehm, David J Amor

Journal article  |  2017  |  BMJ Paediatrics Open

Introduction: The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents..

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

Asha Bonney, Michael Christie, Anne Beaty, Sebastian Lunke, Graham Taylor, Louis Irving, Daniel Steinfort

Journal article  |  2016  |  Journal of Thoracic Disease

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

Eva Segelov, Subotheni Thavaneswaran, Paul M Waring, Jayesh Desai, Kristy P Robledo, Val J Gebski, Elena Elez, Louise M Nott, Christos S Karapetis, Sebastian Lunke, Lorraine A Chantrill, Nick Pavlakis, Mustafa Khasraw, Craig Underhill, Fortunato Ciardiello, Michael Jefford, Harpreet Wasan, Andrew Haydon, Timothy J Price, Guy van Hazel, et al.

Journal article  |  2016  |  Journal of Clinical Oncology

High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq

Olga Kondrashova, Clare J Love, Sebastian Lunke, Arthur L Hsu, Paul M Waring, Graham R Taylor

Journal article  |  2015  |  PLOS ONE

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon P Sadedin, Harriet Dashnow, Paul A James, Melanie Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason P Ross, Kirby R Siemering, Zornitza Stark, Susan M White, Graham Taylor, Clara Gaff, Alicia Oshlack, Natalie P Thorne

Journal article  |  2015  |  Genome Medicine

AmpliVar: Mutation Detection in High-Throughput Sequence from Amplicon-Based Libraries

Arthur L Hsu, Olga Kondrashova, Sebastian Lunke, Clare J Love, Cliff Meldrum, Renate Marquis-Nicholson, Greg Corboy, Pham Kym, Matthew Wakefield, Paul M Waring, Graham R Taylor

Journal article  |  2015  |  Human Mutation

Tracking the origins and drivers of subclonal metastatic expansion in prostate cancer

Matthew KH Hong, Geoff Macintyre, David C Wedge, Peter Van Loo, Keval Patel, Sebastian Lunke, Ludmil B Alexandrov, Clare Sloggett, Marek Cmero, Francesco Marass, Dana Tsui, Stefano Mangiola, Andrew Lonie, Haroon Naeem, Nikhil Sapre, Pramit M Phal, Natalie Kurganovs, Xiaowen Chin, Michael Kerger, Anne Y Warren, et al.

Journal article  |  2015  |  NATURE COMMUNICATIONS

Applicability of Histone Deacetylase Inhibition for the Treatment of Spinal Muscular Atrophy

Sebastian Lunke, Assam El-Osta

Journal article  |  2013  |  Neurotherapeutics

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

Nicholas C Wong, Jane Ng, Nathan E Hall, Sebastian Lunke, Marika Salmanidis, Gabriela Brumatti, Paul G Ekert, Jeffrey M Craig, Richard Saffery

Journal article  |  2013  |  Genomics

Contraction-induced Interleukin-6 Gene Transcription in Skeletal Muscle Is Regulated by c-Jun Terminal Kinase/Activator Protein-1

Martin Whitham, MH Stanley Chan, Martin Pal, Vance B Matthews, Oja Prelovsek, Sebastian Lunk, Assam El-Osta, Hella Broenneke, Jens Alber, Jens C Bruening, F Thomas Wunderlich, Graeme I Lancaster, Mark A Febbraio

Journal article  |  2012  |  Journal of Biological Chemistry

Role of Histone Acetylation in the Stimulatory Effect of Valproic Acid on Vascular Endothelial Tissue-Type Plasminogen Activator Expression

Pia Larsson, Erik Ulfhammer, Mia Magnusson, Niklas Bergh, Sebastian Lunke, Assam El-Osta, Robert L Medcalf, Per-Arne Svensson, Lena Karlsson, Sverker Jern

Journal article  |  2012  |  PLoS ONE

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

Sebastian Lunke, Assam El-Osta

Journal article  |  2009  |  Journal of Neurochemistry

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

Jan Hauke, Markus Riessland, Sebastian Lunke, Ilker Y Eyuepoglu, Ingmar Bluemcke, Assam El-Osta, Brunhilde Wirth, Eric Hahnen

Journal article  |  2009  |  Human Molecular Genetics