Stark, Zornitza

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

Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 619

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

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

Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 159

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Béna, F., Bruno, D. L., Eriksson, M., van Ravenswaaij‐Arts, C., Stark, Z., Dijkhuizen, T., Gerkes, E., Gimelli, S., Ganesamoorthy, D., Thuresson, A. C., et al. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 109

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

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

D'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E. J., Holland, J., et al. (2023) · The Lancet Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 80

The severe epilepsy syndromes of infancy: A population‐based study

Howell, K. B., Freeman, J. L., Mackay, M. T., Fahey, M. C., Archer, J., Berkovic, S. F., Chan, E., Dabscheck, G., Eggers, S., Hayman, M., et al. (2021) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 72

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Brett, G. R., Martyn, M., Lynch, F., de Silva, M. G., Ayres, S., Gallacher, L., Boggs, K., Baxendale, A., Schenscher, S., King-Smith, S., et al. (2020) · Genetics in Medicine

Genomics and Rare DiseasesEthics and Legal Issues in Pediatric Healthcare

Cited by 47

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

Friedman, J. M., Bombard, Y., Cornel, M. C., Fernandez, C. V., Junker, A. K., Plon, S. E., Stark, Z., & Knoppers, B. M. (2019) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 44

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

Stark, Z., Nisselle, A., McClaren, B., Lynch, F., Best, S., Long, J. C., Martyn, M., Patel, C., Schlapbach, L. J., Barnett, C., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 43

IREB2-associated neurodegeneration.

Cooper, M. S., Stark, Z., Lunke, S., Zhao, T., & Amor, D. J. (2019) · Brain

Neurological diseases and metabolismGenetics and Neurodevelopmental Disorders

Cited by 28

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson, L. S., Eggers, S., Love, C. J., Chong, B., Krzesinski, E. I., Brown, N. J., Tan, T. Y., Richmond, C. M., Thorburn, D. R., Christodoulou, J., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 28

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Francis, D. I., Stark, Z., Scheffer, I. E., Tan, T. Y., Murali, K., Gallacher, L., Amor, D. J., Goel, H., Downie, L., Stutterd, C. A., et al. (2023) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 16

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

Richmond, C. M., Campbell, S., Foo, H. W., Lunke, S., Stark, Z., Moody, A., Bannister, E., Greenway, A., & Brown, N. (2020) · Molecular Syndromology

Erythrocyte Function and PathophysiologyHemoglobinopathies and Related Disorders

Cited by 12