Sebastian Lunke

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Ilias Goranitis, Amanda B Spurdle, David P Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J Newson, Hamish S Scott, Natalie Thorne, Robyn L Ward, Marcel E Dinger, Stephanie Best, Janet C Long, Sean M Grimmond, John Pearson, et al.

Journal article  |  2023  |  Am J Hum Genet

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to ..

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

Nicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, Adhish S Walvekar, Marc O Warmoes, Liana N Semcesen, Sebastian Lunke, Shobhana Bommireddipalli, Tim Sikora, Myrto Patraskaki, Dean L Jones, Denisse Garza, Dale Sebire, Samuel Gooley, Catriona A McLean, Parm Naidoo, Mugil Rajasekaran, David A Stroud, Carole L Linster, Mathew Wallis, et al.

Journal article  |  2023  |  Int J Mol Sci

We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condi..

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Ari EE Horton, Sebastian Lunke, Simon Sadedin, Andrew PP Fennell, Zornitza Stark

Journal article  |  2023  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Ultra-rapid genomic testing, a game changer in facilitating disease modifying treatment in a critically ill newborn

Shanti Balasubramaniam, Katherine Li, Alan Ma, Sebastian Lunke, Amit Trivedi, Deepak Gill, Julie Curtin, Zornitza Stark

Journal article  |  2023  |  Pathology

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

David I Francis, Zornitza Stark, Ingrid E Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J Amor, Himanshu Goel, Lilian Downie, Chloe A Stutterd, Emma I Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L Oliver, Anne Baxter, et al.

Journal article  |  2022  |  EUROPEAN JOURNAL OF HUMAN GENETICS

We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic co..

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Emma Tudini, James Andrews, David M Lawrence, Sarah L King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R Davis, Lucas Dejong, Marcel E Dinger, et al.

Journal article  |  2022  |  Am J Hum Genet

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Au..

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Jane L Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H Bennetts, Corrina C Cliffe, Evanthia O Madelli, Gladys Ho, Jan Liebelt, Janet C Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D Emery, Julie McGaughran, Justine E Marum, et al.

Journal article  |  2022  |  JOURNAL OF PERSONALIZED MEDICINE

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosoma..

The role of exome sequencing in childhood interstitial or diffuse lung disease

Suzanna EL Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, Andre Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe

Journal article  |  2022  |  ORPHANET JOURNAL OF RARE DISEASES

BACKGROUND: Children's interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene pane..

Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside?

Sebastian Lunke, Zornitza Stark

Journal article  |  2022  |  CLINICAL CHEMISTRY

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Ilias Goranitis, You Wu, Sebastian Lunke, Susan M White, Tiong Y Tan, Alison Yeung, Matthew F Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: To evaluate whether the additional cost of providing increasingly faster genomic results in pediatric critical care is ou..