Sebastian Lunke

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher P Barnett, Meredith Wilson, Sarah A Sandaradura, Belinda McClaren, Gemma R Brett, Jeffrey Braithwaite, Zornitza Stark

Journal article  |  2021  |  npj Genomic Medicine

In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on i..

Epigenetic evidence of an Ac/Dc axis by VPA and SAHA.

Sebastian Lunke, Scott Maxwell, Ishant Khurana, Harikrishnan K N, Jun Okabe, Keith Al-Hasani, Assam El-Osta

Journal article  |  2021  |  Clinical Epigenetics

BACKGROUND: Valproic acid (VPA) is one of the most commonly used anti-epileptic drugs with pharmacological actions on GABA and blo..

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

Katja Apelt, Susan M White, Hyun Suk Kim, Jung-Eun Yeo, Angela Kragten, Annelotte P Wondergem, Martin A Rooimans, Roman Gonzalez-Prieto, Wouter W Wiegant, Sebastian Lunke, Daniel Flanagan, Sarah Pantaleo, Catherine Quinlan, Winita Hardikar, Haico van Attikum, Alfred CO Vertegaal, Brian T Wilson, Rob MF Wolthuis, Orlando D Scharer, Martijn S Luijsterburg

Journal article  |  2021  |  Journal of Experimental Medicine

ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER), interstrand cross-link (ICL) repair, and..

Paediatric genomic testing: Navigating medicare rebatable genomic testing

Rani Sachdev, Mike Field, Gareth S Baynam, John Beilby, Maria Berarducci, Yemima Berman, Tiffany Boughtwood, Marie B Cusack, Vanessa Fitzgerald, Jeffery Fletcher, Mary-Louise Freckmann, Natalie Grainger, Edwin Kirk, Ben Lundie, Sebastian Lunke, Lesley McGregor, David Mowat, Gayathri Parasivam, Vanessa Tyrell, Mathew Wallis, et al.

Journal article  |  2021  |  Journal of Paediatrics and Child Health

Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellec..

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy

Christopher M Richmond, Paul A James, Sarah-Jane Pantaleo, Belinda Chong, Sebastian Lunke, Tiong Y Tan, Ivan Macciocca

Journal article  |  2021  |  Genetics in Medicine

PURPOSE: ClinGen provides gene-specific guidance for interpretation of sequence variants in MYH7. We assessed laboratory and clini..

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica A Taylor, Joshua Schultz, et al.

Journal article  |  2021  |  Journal of the Neurological Sciences

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for ..

PanelApp: accelerating international consensus on virtual gene panels through collaboration on a federated open platform

Z Stark, RE Foulger, E Williams, B Thompson, C Patel, IUS Leong, LC Daugherty, S Leigh, C Snow, C Boustred, O Niblock, A Rueda-Martin, O Gerasimenko, E Ivanov, K Savage, W Bellamy, V San Kho Lin, R Valls, L Gordon, H Brittain, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MJ Hunter, M Delatycki, C Stutterd, R Savarirayan, G McGillivray, R Stapleton, S Kumble, L Downie, M Regan, S Lunke, B Chong, D Phelan, G Brett, A Jarmolowicz, Y Prawer, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (vol 28, pg 587, 2020)

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

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, et al.

Journal article  |  2020  |  Obstetrical & Gynecological Survey