Zornitza Stark
机构: Victorian Clinical Genetics Services; Australian Genomics
每年引用次数
引用次数
引用: 8,369
H-指数: 45
I10-指数 : 128
出版物: 248
Human RNA Nm-MTase FTSJ1: new tRNA targets and role in the regulation of brain-specific genes.
Dilyana G Dimitrova , Brazane M , Tao Ye , Virginie Marchand
bioRxiv
2021
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Jan M Friedman , Yvonne Bombard , Martina C Cornel , Conrad V Fernandez
Genet Med
46
2018
THE IMPACT OF INLUENZA A ON CHILDREN WITH DISABILITIES
Zornitza L Stark , James P Buttery , Giuliana C Antolovich , Dinah S Reddihough
Journal of Paediatrics and Child Health 40 332 -332
4
2004
Health economic evaluation in rare disease genomics: an international perspective
Zornitza Stark , Clara Gaff , Deborah Schofield , Deborah Schofield
2017
The severe epilepsy syndromes of infancy: A population-based study.
Samuel F Berkovic , Samuel F Berkovic , Jessica Riseley , Victoria Rodriguez-Casero
Epilepsia 62 ( 2) 358 -370
1
2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
Christopher P. Barnett , Gemma R. Brett , Meredith Wilson , Jeffrey Braithwaite
npj Genomic Medicine 6 ( 1) 1 -9
2021
Clinical Genomics: Integrated teamworking across the sociotechnical divide
Zornitza Stark , Clara Gaff , Belinda McClaren , Janet. C Long
International Journal of Integrated Care 20 ( 3) 32
2021
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment
Zornitza Stark , Stephanie Best , Ilias Goranitis , John Christodoulou
European Journal of Human Genetics 1 -9
2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
Fowzan S. Alkuraya , Yael Wilnai , Pavel N. Pichurin , Hakon Hakonarson
American Journal of Medical Genetics Part A 185 ( 6) 1649 -1665
2021
Clinical versus research genomics in kidney disease.
Zornitza Stark , John Sayer , John Sayer , John Sayer
Nature Reviews Nephrology 1 -2
2021
Teamwork in clinical genomics: A dynamic sociotechnical healthcare setting
Zornitza Stark , Janet C. Long , Stephanie Best , Natalie Taylor
Journal of Evaluation in Clinical Practice
2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Laura A Genovesi , Thomas H J Burne , Thomas H J Burne , Sebastian Glatt
Nature Communications 12 ( 1) 2678 -2678
2021
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
Lars R. Jensen , Lillian Garrett , Sabine M. Hölter , Birgit Rathkolb
Biochimica et Biophysica Acta 1865 ( 9) 2083 -2093
12
2019
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Eric Lee , Trang Le , Ying Zhu , George Elakis
Genetics in Medicine 20 ( 9) 1061 -1068
23
2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Zornitza Stark , , Sebastian Lunke , Gemma R Brett
Genetics in Medicine 20 ( 12) 1554 -1563
120
2018
Meeting report of the 2017 KidGen Renal Genetics Symposium.
Kushani Jayasinghe , , Cathy Quinlan , Zornitza Stark
Human Genomics 12 ( 1) 1 -6
2
2018
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.
Ravi Savarirayan , Trent Burgess , Andrew A. Heggie , Georgina Caruana
Molecular Syndromology 5 ( 6) 276 -286
7
2014
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Maie Walsh , Katrina M. Bell , Belinda Chong , Emma Creed
Annals of clinical and translational neurology 4 ( 5) 318 -325
22
2017
Novel Missense Mutations in a Conserved Loop Between ERCC6 (CSB) Helicase Motifs V and VI: Insights Into Cockayne Syndrome
Brian T. Wilson , Anneline Lochan , Zornitza Stark , Ruth E. Sutton
American Journal of Medical Genetics Part A 170 ( 3) 773 -776
1
2016
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Zornitza Stark , Joanna Behrsin , Trent Burgess , Anna Ritchie
American Journal of Medical Genetics Part A 167 ( 10) 2319 -2326
13
2015