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
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation
Fiona Lynch , Stephanie Best , Clara Gaff , Lilian Downie
International Journal of Neonatal Screening 10 ( 1) 6 -6
4
2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch , Stephanie Best , Clara Gaff , Lilian Downie
Human Genomics 18 ( 1) 45 -45
2024
Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants
Sachini Poogoda , Fiona Lynch , Zornitza Stark , Dominic Wilkinson
Children 10 ( 6) 970 -970
2023
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
Rachel Austin , Jaye S Brown , Sarah Casauria , Evanthia O Madelli
Genetics in Medicine Open 2 101842 -101842
2024
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning
Hilary Bowman-Smart , Danya F Vears , Gemma R Brett , Melissa Martyn
European Journal of Human Genetics 30 ( 9) 1036 -1043
10
2022
Consent for rapid genomic sequencing for critically ill children: legal and ethical issues
Christopher Gyngell , Fiona Lynch , Zornitza Stark , Danya Vears
Monash Bioethics Review 1 -13
6
2021
Rapid genome sequencing: consent for new technologies in the neonatal intensive care context
Fiona Lynch , Trisha Prentice , Lynn Gillam , Zornitza Stark
Pediatrics 150 ( 6) e2022058222 -e2022058222
4
2022
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
Sebastian Lunke , Sophie E Bouffler , Lilian Downie , Jade Caruana
BMJ open 14 ( 4) e081426 -e081426
1
2024
Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges
Katie Arkell , Christopher Gyngell , Zornitza Stark , Danya F Vears
Children 10 ( 5) 824 -824
1
2023
Public perspectives on genomic newborn screening: a qualitative approach
Danya Vears , Fiona Lynch , Christopher Gyngell , Stephanie Best
EUROPEAN JOURNAL OF HUMAN GENETICS 32 761 -762
2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M D'Gama , Sarah Mulhern , Beth R Sheidley , Fadil Boodhoo
The Lancet Neurology 22 ( 9) 812 -825
20
2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships-allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts , Marina T DiStefano , Erin Rooney Riggs , Katherine S Josephs
MedRxiv 2023.03. 30.23287948 -2023.03. 30.23287948
4
2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts , Marina T DiStefano , Erin Rooney Riggs , Katherine S Josephs
Genetics in Medicine 26 ( 2) 101029 -101029
1
2024
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
The American Journal of Human Genetics 108 ( 9) 1551 -1557
49
2021
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
Human Genetics and Genomics Advances 4 ( 1)
6
2023
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study
Amali C Mallawaarachchi , Lindsay Fowles , Louise Wardrop , Alasdair Wood
Clinical Journal of the American Society of Nephrology 10.2215 -10.2215
2024
Biallelic variants in MRPL49 cause combined oxidative phosphorylation deficiency characterised by pleiotropic clinical presentations
Huw Thomas , Leigh Demain , Thashi Bharadwaj , Hanan Shamseldin
EUROPEAN JOURNAL OF HUMAN GENETICS 32 431 -431
2024
Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome (vol 185A, pg 1649, 2021)
Sarah E Sheppard , Ian M Campbell , Margaret H Harr , Nina Gold
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 188 ( 3) 1015 -1015
2022
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Atteeq U Rehman , Maryam Najafi , Marios Kambouris , Lihadh Al‐Gazali
Human mutation 40 ( 3) 267 -280
28
2019
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
María del Rocío Pérez Baca , Eva Z Jacobs , Lies Vantomme , Pontus Leblanc
The American Journal of Human Genetics
1
2024