PREPARING AUSTRALIA FOR GENOMIC MEDICINE: A PROPOSAL BY THE AUSTRALIAN GENOMICS HEALTH ALLIANCE

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Elizabeth E Palmer, Katherine B Howell

2022-06-14

AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). MET..

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

Lauren S Akesson, Rocio Rius, Natasha J Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G Compton, David R Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

2022-05-01

Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse popul..

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Sarah U Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H Wojcik, Courtney E French, Anna Szuto, James J Dowling, Ronald D Cohn, F Lucy Raymond, Basil T Darras, David A Williams, Sebastian Lunke, Zornitza Stark, David H Rowitch, Pankaj B Agrawal

2022-03-07

IMPORTANCE: Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require ..

The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions

Yan Meng, Philip M Clarke, Ilias Goranitis

2022-02-01

OBJECTIVES: The aim of this study was to elicit the willingness-to-pay (WTP) for genomic testing, using contingent valuation, amon..

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H Trainer, Katherine M Tucker, Gillian Mitchell, Paul A James, Robyn L Ward, Helen Mar Fan

2021-12-01

BACKGROUND: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the ..

Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases

Kushani Jayasinghe, You Wu, Zornitza Stark, Peter G Kerr, Andrew J Mallett, Clara Gaff, Melissa Martyn, Ilias Goranitis, Catherine Quinlan

2021-11-05

BACKGROUND: Despite the emergence of diagnostic and clinical utility evidence in nephrology, publicly funded access to genomic tes..

Refget: standardized access to reference sequences

Andrew D Yates, Jeremy Adams, Somesh Chaturvedi, Robert M Davies, Matthew Laird, Rasko Leinonen, Rishi Nag, Nathan C Sheffield, Oliver Hofmann, Thomas M Keane

2021-07-14

MOTIVATION: Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especial..

Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

Cameron L McKnight, Yau Chung Low, David A Elliott, David R Thorburn, Ann E Frazier

2021-07-01

Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Aff..

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

Ilias Goranitis, Stephanie Best, John Christodoulou, Tiffany Boughtwood, Zornitza Stark

2021-04-02

Healthcare systems are increasingly considering widespread implementation of rapid genomic testing of critically ill children, but..

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Rocio Rius, Alison G Compton, Naomi L Baker, AnneMarie E Welch, David Coman, Maina P Kava, Andre E Minoche, Mark J Cowley, David R Thorburn, John Christodoulou

2021-04-01

Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multi..

Investigation of current models of care for genetic heart disease in Australia: A national clinical audit

Rachel Austin, Michael CJ Quinn, Clifford Afoakwah, Alejandro Metke-Jimenez, Hugo Leroux, John Atherton, Jaye S Brown, Linda J Wornham, Ivan Macciocca, Michelle G de Silva, Tina Thompson, Ellenore M Martin, Desiree Hilton, Sophie Devery, Kathy HC Wu, Matilda R Jackson, Gemma Correnti, Angela Overkov, Stefanie Elbracht-Leong, Jodie Ingles

2021-03-19

BACKGROUND: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation..

Crypt4GH: a file format standard enabling native access to encrypted data

Alexander Senf, Robert Davies, Frederic Haziza, John Marshall, Juan Troncoso-Pastoriza, Oliver Hofmann, Thomas M Keane

2021-02-05

MOTIVATION: The majority of genome analysis tools and pipelines require data to be decrypted for access. This potentially leaves s..

'CTRL': an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research

Matilda A Haas, Harriet Teare, Megan Prictor, Gabi Ceregra, Miranda E Vidgen, David Bunker, Jane Kaye, Tiffany Boughtwood

2021-01-06

The complexities of the informed consent process for participating in research in genomic medicine are well-documented. Inspired b..

Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

AE Frazier, AG Compton, Y Kishita, DH Hock, AE Welch, SSC Amarasekera, R Rius, LE Formosa, A Imai-Okazaki, D Francis, M Wang, NJ Lake, S Tregoning, JS Jabbari, A Lucattini, R Nitta, A Ohtake, K Murayama, DJ Amor, G McGillivray

2020-12-01

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn

2020-10-12

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficienc..

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

Ilias Goranitis, Stephanie Best, Zornitza Stark, Tiffany Boughtwood, John Christodoulou

2020-08-25

PURPOSE: To estimate the value of genomic sequencing for complex pediatric neurological disorders of suspected genetic origin. MET..

Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1

Lauren J Howson, Wael Awad, Anouk von Borstel, Hui Jing Lim, Hamish EG McWilliam, Maria L Sandoval-Romero, Shamik Majumdar, Abdul Rezzak Hamzeh, Thomas D Andrews, David H McDermott, Philip M Murphy, Jerome Le Nours, Jeffrey YW Mak, Ligong Liu, David P Fairlie, James McCluskey, Jose A Villadangos, Matthew C Cook, Stephen J Turner, Martin S Davey

2020-07-10

The role unconventional T cells play in protective immunity in humans is unclear. Mucosal-associated invariant T (MAIT) cells are ..

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Ilias Goranitis, Stephanie Best, John Christodoulou, Zornitza Stark, Tiffany Boughtwood

2020-05-06

PURPOSE: To estimate the personal utility and uptake of genomic sequencing (GS) across pediatric and adult-onset genetic condition..

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P Almanza Fuerte, Michele G Mehaffey, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim

2020-04-22

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities..

A Malignant Neoplasm From the Jejunum With a MALAT1-GLI1 Fusion and 26-Year Survival History

Owen William John Prall, Christopher Robert Edward McEvoy, David John Byrne, Amir Iravani, Judy Browning, David Yew-Huong Choong, Bhargavi Yellapu, Sophie O'Haire, Kortnye Smith, Stephen James Luen, Paul Leslie Ross Mitchell, Jayesh Desai, Stephen Bernard Fox, Andrew Fellowes, Huiling Xu

2020-01-13

The transcription factor GLI1 is a critical effector of the sonic hedgehog pathway. Gene fusions that activate GLI1 have recently ..

MEK Inhibitor Therapy in Carcinomas With RAF1 Fusions: Inferior Response in a Patient With Pancreatic Acinar Cell Carcinoma

Christopher R McEvoy, Damien Kee, Owen WJ Prall, Timothy D Clay, Clare Scott, Anastasia Backhouse, Stephen B Fox, Andrew P Fellowes, Huiling Xu

2019-08-07

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

Kushani Jayasinghe, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Stephanie Best, Melissa Martyn, Catherine Quinlan, Andrew J Mallett

2019-08-01

INTRODUCTION: Recent advances in genomic technology have allowed better delineation of renal conditions, the identification of new..

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

Natalie Taylor, Stephanie Best, Melissa Martyn, Janet C Long, Kathryn N North, Jeffrey Braithwaite, Clara Gaff

2019-06-01

INTRODUCTION: Translating scientific advances in genomic medicine into evidence-based clinical practice is challenging. Studying t..

Profound MEK inhibitor response in a cutaneous melanoma harboring a GOLGA4-RAF1 fusion

Christopher R McEvoy, Huiling Xu, Kortnye Smith, Dariush Etemadmoghadam, Huei San Leong, David Y Choong, David J Byrne, Amir Iravani, Sophie Beck, Linda Mileshkin, Richard W Tothill, David D Bowtell, Bindi M Bates, Violeta Nastevski, Judy Browning, Anthony H Bell, Chloe Khoo, Jayesh Desai, Andrew P Fellowes, Stephen B Fox

2019-05-01

BRAF and CRAF are critical components of the MAPK signaling pathway which is activated in many cancer types. In approximately 1% o..

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky

2017-04-19