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Author Details

Zornitza Stark
Murdoch Children's Research Institute
2001
187
34
PMIDPaper TitleJournal TitlePublished Year
37777873Response to Lombardi and Mesnard.Genet Med2024
37864047Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.Eur J Hum Genet2024
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
36939042Microcosting diagnostic genomic sequencing: A systematic review.Genet Med2023
37596007Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.Lancet Neurol2023
37489581Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation.Genet Med2023
37553611The application of long-read sequencing in clinical settings.Hum Genomics2023
37587497Determining the utility of diagnostic genomics: a conceptual framework.Hum Genomics2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
37291213Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nat Med2023
37386126Genomic newborn screening for rare diseases.Nat Rev Genet2023
37249002DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variants.Epigenomics2023
37075751POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.Am J Hum Genet2023
37371202Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants.Children (Basel)2023
37238372Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges.Children (Basel)2023
37400487Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia.Eur J Hum Genet2023
37270192Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.BMJ Open2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
37165955Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.Genet Med2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
37092873Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.Pediatr Blood Cancer2023
36446895Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.Eur J Hum Genet2023
36720500The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.Life Sci Alliance2023
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
36732660Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?Eur J Hum Genet2023
34740920Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.J Med Genet2022
35381620Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.Br J Haematol2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35348259Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.J Paediatr Child Health2022
35433172Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD Rep2022
35831422'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning.Eur J Hum Genet2022
35721054The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.Front Med (Lausanne)2022
35848937Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside?Clin Chem2022
36408368A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.HGG Adv2022
36443237Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context.Pediatrics2022
35908231Genomic testing in premature ovarian insufficiency: proceed with caution.Biol Reprod2022
36272999Co-design, implementation, and evaluation of plain language genomic test reports.NPJ Genom Med2022
36367278The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.Am J Med Genet A2022
36332611Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Am J Hum Genet2022
35953518Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery.Eur J Hum Genet2022
36292804Theory Designed Strategies to Support Implementation of Genomics in Nephrology.Genes (Basel)2022
36292688Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study.Genes (Basel)2022
36085161The role of exome sequencing in childhood interstitial or diffuse lung disease.Orphanet J Rare Dis2022
35254387Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.JAMA Neurol2022
35181209Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.Genet Med2022
35147173Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.Hum Mol Genet2022
35055180Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.Int J Mol Sci2022
35165146Ethylmalonic encephalopathy masquerading as meningococcemia.Cold Spring Harb Mol Case Stud2022
34542157Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.Hum Mol Genet2022
34744166Rapid genomic testing for critically ill children: time to become standard of care?Eur J Hum Genet2022
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Collaborators

University of Melbourne, The Royal Children's Hospital
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Co-authored papers 24
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Co-authored papers 9
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University of Melbourne
Co-authored papers 7
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Co-authored papers 7
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 7
Prince of Wales Hospital
Co-authored papers 7
University of Melbourne
Co-authored papers 7
Co-authored papers 6
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Murdoch Children's Research Institute
Co-authored papers 6
Co-authored papers 5
King Faisal Specialist Hospital and Research Center
Co-authored papers 5
Johns Hopkins University School of Medicine
Co-authored papers 4
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
The Broad Institute of MIT and Harvard
Co-authored papers 4
Children's Hospital of Eastern Ontario
Co-authored papers 4
Co-authored papers 4
Maastricht University Medical Centre
Co-authored papers 3
Geisinger Autism & Developmental Medicine Institute
Co-authored papers 3
National Heart and Lung Institute, Imperial College London
Co-authored papers 3
St George's University Hospitals NHS Foundation Trust
Co-authored papers 3
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QIMR Berghofer Medical Research Institute
Co-authored papers 3
University of Utah
Co-authored papers 3
European Bioinformatics Institute
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