Sebastian Lunke

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, Rolph Pfundt, Sanne W ten Broeke, Nicole de Leeuw, Laura Roht, Sander Pajusalu, Reelika Part, Ionella Rebane, Katrin Ounap, Zornitza Stark, Edwin P Kirk, John A Lawson, Sebastian Lunke, John Christodoulou, Raymond J Louie, R Curtis Rogers, Jessica M Davis, A Micheil Innes, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of ..

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark, Rebecca E Foulger, Eleanor Williams, Bryony A Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone US Leong, Arina Puzriakova, Louise C Daugherty, Sarah Leigh, Christopher Boustred, Olivia Niblock, Antonio Rueda-Martin, Oleg Gerasimenko, Kevin Savage, William Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide va..

MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer

Patrick McCoy, Stefano Mangiola, Geoff Macintyre, Ryan Hutchinson, Ben Tran, Bernard Pope, Peter Georgeson, Matthew KH Hong, Natalie Kurganovs, Sebastian Lunke, Michael J Clarkson, Marek Cmero, Michael Kerger, Ryan Stuchbery, Ken Chow, Izhak Haviv, Andrew Ryan, Anthony J Costello, Niall M Corcoran, Christopher M Hovens

Journal article  |  2021  |  PROSTATE CANCER AND PROSTATIC DISEASES

BACKGROUND: Recent publications have shown patients with defects in the DNA mismatch repair (MMR) pathway driven by either MSH2 or..

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D Kurniawan, Alun Jones, Katarzyna Drozdzyk, Anna Koscielniak, Andrzej Chramiec-Glabik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A Genovesi, Rannva K Abrahamsen, Christina D Fenger, Camilla G Madsen, Julie S Cohen, Ali Fatemi, et al.

Journal article  |  2021  |  NATURE COMMUNICATIONS

Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common neurodevelopmental disorders and are character..

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

Sebastian Lunke, Scott Maxwell, Ishant Khurana, KN Harikrishnan, 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..

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..

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 ..