Z. Stark

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Monique M. Ryan, Alicia Oshlack, Peter Georgeson, 2017, Annals of clinical and translational neurology.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

Z. Stark, D. Francis, E. Baker, 2019, Genes.

Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia.

Z. Stark, N. Patel, Amanda Moody, 2007, Journal of pediatric surgery.

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

N. Laing, M. Komatsu, A. Kornberg, 2020, Journal of Medical Genetics.

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Clara Gaff, Alicia Oshlack, Harriet Dashnow, 2017, European Journal of Human Genetics.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

N. Brown, A. Kornberg, Z. Stark, 2014, American journal of medical genetics. Part A.

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.

P. Lockhart, Z. Stark, D. Amor, 2010, European journal of medical genetics.

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction

Z. Stark, D. Francis, H. Slater, 2015, American journal of medical genetics. Part A.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Z. Stark, S. Sadedin, S. Lunke, 2023, European Journal of Human Genetics.

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening

Z. Stark, M. Delatycki, Smitha Kumble, 2022, Journal of paediatrics and child health.

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

N. Brown, H. Hakonarson, Yiran Guo, 2022, JIMD reports.

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.

Z. Stark, S. Lunke, S. White, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases

P. Kerr, Z. Stark, A. Mallett, 2021, Kidney international reports.

Teamwork in clinical genomics: A dynamic sociotechnical healthcare setting.

J. Braithwaite, Z. Stark, J. Long, 2021, Journal of evaluation in clinical practice.

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

J. Braithwaite, S. Sandaradura, Z. Stark, 2021, npj Genomic Medicine.

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

J. Braithwaite, S. Sandaradura, Meredith Wilson, 2021, npj Genomic Medicine.

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

N. Brown, Z. Stark, S. Lunke, 2020, Molecular Syndromology.

IREB2-associated neurodegeneration.

Z. Stark, D. Amor, S. Lunke, 2019, Brain : a journal of neurology.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

M. Dinger, Z. Stark, C. Barnett, 2019, European Journal of Human Genetics.

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Z. Stark, M. Pertile, D. Francis, 2011, Journal of Medical Genetics.

Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study

Z. Stark, A. Mallett, C. Simons, 2022, Genes.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

M. D. Del Bigio, K. Boycott, J. Christodoulou, 2021, Human molecular genetics.

THE IMPACT OF INLUENZA A ON CHILDREN WITH DISABILITIES

Z. Stark, D. Reddihough, J. Buttery, 2004 .

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

M. Clark, J. Christodoulou, Z. Stark, 2020, medRxiv.

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

J. Christodoulou, Z. Stark, I. Goranitis, 2020, Genetics in Medicine.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

J. Shendure, B. O’Roak, C. Haldeman-Englert, 2014, American journal of human genetics.

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

Bassem A. Hassan, J. Gécz, T. Préat, 2021, Life Science Alliance.

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

J. Gécz, H. Fuchs, D. Busch, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

Z. Stark, S. Lunke, S. Ojaimi, 2018, Allergy, Asthma & Clinical Immunology.

Meeting report of the 2017 KidGen Renal Genetics Symposium

Z. Stark, A. Mallett, M. Saleem, 2018, Human Genomics.

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Melissa J. Davis, M. Bodén, S. Hediyeh-zadeh, 2021, Nature Communications.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

K. Boycott, D. Bulman, Z. Stark, 2016, American journal of medical genetics. Part A.

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

M. Dinger, Z. Stark, C. Theda, 2019, European Journal of Human Genetics.

Axenfeld–Rieger syndrome as rare cause of umbilical abnormality

Z. Stark, J. Said, P. Charan, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou, Z. Stark, K. Rose, 2020, Human mutation.

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Matthew A. White, C. Bönnemann, R. Maroofian, 2020, Human molecular genetics.

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

T. Roscioli, Meredith Wilson, J. Christodoulou, 2020, Human mutation.

The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

J. Braithwaite, Z. Stark, J. Long, 2020, Genetics in Medicine.

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

P. Kerr, Z. Stark, A. Mallett, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

P. Kerr, Z. Stark, A. Mallett, 2019, BMC Nephrology.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?

Z. Stark, M. Zenker, S. Kant, 2015, American journal of medical genetics. Part A.

Methyl‐CpG binding domain 4, DNA glycosylase (MBD4)‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

S. Grimmond, E. Thompson, Z. Stark, 2022, British journal of haematology.

Two-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

Y. Bombard, Z. Stark, M. Delatycki, 2023, BMJ Open.

Genomic newborn screening for rare diseases

R. Scott, Z. Stark, 2023, Nature Reviews Genetics.

Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants

J. Savulescu, D. Wilkinson, Z. Stark, 2023, Children.

Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges

Z. Stark, D. Vears, Christopher Gyngell, 2023, Children.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

Z. Stark, M. Zenker, A. Rauch, 2015, American journal of medical genetics. Part A.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

The impact of influenza A on children with disabilities.

Z. Stark, D. Reddihough, J. Buttery, 2004, Journal of paediatrics and child health.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

Marina T. DiStefano, E. McDonagh, H. Rehm, 2023, medRxiv.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

I. Scheffer, C. Marshall, V. Chau, 2023, The Lancet Neurology.

Determining the utility of diagnostic genomics: a conceptual framework

Z. Stark, A. Mallett, I. Goranitis, 2023, Human Genomics.

Genomic testing in premature ovarian insufficiency: proceed with caution

A. Sinclair, Z. Stark, E. Tucker, 2022, Biology of Reproduction.

Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease

J. Christodoulou, T. Dudding-Byth, Z. Stark, 2023, Pediatric blood & cancer.

The application of long-read sequencing in clinical settings

U. Schmitz, Z. Stark, A. Mallett, 2023, Human Genomics.

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

N. Brown, J. Christodoulou, Z. Stark, 2022, International journal of molecular sciences.

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Zornitza Stark, Tiong Y Tan, Susan M White, 2018, npj Genomic Medicine.

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

Z. Stark, M. Delatycki, L. Gillam, 2016, Journal of Medical Ethics.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

V. Mootha, M. Lek, S. Calvo, 2023, Human Molecular Genetics.

Multi-omics for better and faster rare disease diagnosis

Z. Stark, S. Lunke, 2023, Nature Medicine.

KBG syndrome: An Australian experience.

M. Tekin, T. Roscioli, Meredith Wilson, 2017, American journal of medical genetics. Part A.

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Melissa Martyn, Zornitza Stark, Deborah Schofield, 2018, Genetics in Medicine.

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Natalie B Tan, D. Phelan, Z. Stark, 2018, Genetics in Medicine.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

C. Marshall, A. Beggs, G. Costain, 2023, medRxiv.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Gene selection for genomic newborn screening: moving towards consensus?

Z. Stark, S. Lunke, I. Macciocca, 2024, Genetics in Medicine.

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

Z. Stark, S. Lunke, D. Vears, 2024, International journal of neonatal screening.

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Denis C. Bauer, N. Thorne, A. Oshlack, 2015, Genome Medicine.