Zornitza Stark

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..

Clinical versus research genomics in kidney disease

Andrew J Mallett, Nine Knoers, John Sayer, Zornitza Stark

Journal article  |  2021  |  NATURE REVIEWS NEPHROLOGY

Teamwork in clinical genomics: A dynamic sociotechnical healthcare setting

Stephanie Best, Helen Brown, Zornitza Stark, Janet C Long, Larissa Ng, Jeffrey Braithwaite, Natalie Taylor

Journal article  |  2021  |  JOURNAL OF EVALUATION IN CLINICAL PRACTICE

RATIONALE, AIMS AND OBJECTIVES: Teamworking across sociotechnical boundaries in healthcare is growing as technological advances in..

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

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Kushani Jayasinghe, Catherine Quinlan, Andrew J Mallett, Peter G Kerr, Belinda McClaren, Amy Nisselle, Amali Mallawaarachchi, Kevan R Polkinghorne, Chirag Patel, Stephanie Best, Zornitza Stark

Journal article  |  2021  |  KIDNEY INTERNATIONAL REPORTS

Introduction: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet est..

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..

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

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, Hayley Goullee, Erik Andersen, Catriona McLean, Mark Davis, Ryosuke Ishimura, Zornitza Stark, Jean-Michel Vallat, Masaaki Komatsu, Andrew Kornberg, Monique Ryan, Nigel G Laing, Gina Ravenscroft

Journal article  |  2020  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological..

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020  |  HUMAN MUTATION

The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

Natalie B Tan, Rachel Stapleton, Zornitza Stark, Martin B Delatycki, Alison Yeung, Matthew F Hunter, David J Amor, Natasha J Brown, Chloe A Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S Pais, Susan M White, Sebastian Lunke, Tiong Y Tan

Journal article  |  2020  |  MOLECULAR GENETICS & GENOMIC MEDICINE

Background Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases re..