Zornitza Stark

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Placais, Laure Teysset, Thomas Preat, Amelie Piton, Bassem A Hassan, Jean-Yves Roignant, Yuri Motorin, et al.

Journal article  |  2023  |  LIFE SCIENCE ALLIANCE

FTSJ1 is a conserved human 2'-O-methyltransferase (Nm-MTase) that modifies several tRNAs at position 32 and the wobble position 34..

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 ..

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

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H Zackai, Sarah E Sheppard, et al.

Journal article  |  2023  |  HGG Adv

WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, W..

Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context

Fiona Lynch, Trisha Prentice, Lynn Gillam, Zornitza Stark, Christopher Gyngell

Journal article  |  2022  |  PEDIATRICS

The clinical utility of rapid genome sequencing (rGS) in critically unwell infants has been consistently demonstrated, and there a..

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..

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Timothy McCubbin, Benjamin Padman, Janine Smith, Lisa G Riley, Archana Priyadarshi, Liuyu Peng, Madison R Nuske, Richard Webster, Ken Peacock, Philip Roberts, Zornitza Stark, Gabrielle Lemire, Yoko A Ito, Kym M Boycott, Michael T Geraghty, Jan Bert Klinken, et al.

Journal article  |  2022  |  HUMAN MOLECULAR GENETICS

Mitochondrial diseases are a group of inherited diseases with highly varied and complex clinical presentations. Here, we report fo..

Co-design, implementation, and evaluation of plain language genomic test reports

Gemma R Brett, Aisha Ward, Sophie E Bouffler, Elizabeth E Palmer, Kirsten Boggs, Fiona Lynch, Amanda Springer, Amy Nisselle, Zornitza Stark

Journal article  |  2022  |  NPJ GENOMIC MEDICINE

Understanding and communicating genomic results can be challenging for families and health professionals without genetic specialty..