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
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Alison Pandelache , Emma K Baker , Solange M. Aliaga , Marta Arpone
Genes 10 ( 4) 279
1
2019
Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays
Damien L. Bruno , Zornitza Stark , David J. Amor , Trent Burgess
Human Mutation 32 ( 12) 1500 -1506
36
2011
Phenotypic variability of distal 22q11.2 copy number abnormalities
Tiong Yang Tan , Amanda Collins , Paul A. James , George McGillivray
American Journal of Medical Genetics Part A 155 ( 7) 1623 -1633
46
2011
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
Zornitza Stark , Monique M. Ryan , Damien L. Bruno , Trent Burgess
American Journal of Medical Genetics Part A 152 ( 9) 2342 -2345
10
2010
Restricted IgG1 subclass of anti-Yo antibodies in paraneoplastic cerebellar degeneration
Elisabeth Amyes , John Curnow , Zornitza Stark , Louise Corlett
Journal of Neuroimmunology 114 ( 1) 259 -264
26
2001
Cornelia de Lange syndrome in diverse populations
Leah Dowsett , Antonio R Porras , Paul Kruszka , Brandon Davis
American Journal of Medical Genetics Part A 179 ( 2) 150 -158
18
2019
Rapid Challenges: Ethics and Genomic Neonatal Intensive Care
Christopher Gyngell , Ainsley J. Newson , Dominic Wilkinson , Zornitza Stark
Pediatrics 143
9
2019
Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency.
Leisa Rebecca Watson , Charlotte A. Slade , Samar Ojaimi , Sara Barnes
Allergy, Asthma & Clinical Immunology 14 ( 1) 65
7
2018
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics
Kushani Jayasinghe , Catherine Quinlan , Andrew J. Mallett , Peter G. Kerr
Kidney International Reports 6 ( 2) 272 -283
1
2021
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
Zornitza Stark , Rebecca Storen , Bruce Bennetts , Ravi Savarirayan
European Journal of Human Genetics 19 ( 7) 753 -756
29
2011
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Megan Higgins , Katherine B. Howell , Lauren Hunt , Matthew F. Hunter
JAMA 323 ( 24) 2503 -2511
102
2020
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature
Charlotte Burns , Abigail Cheung , Zornitza Stark , Sharon Choo
The Journal of Allergy and Clinical Immunology: In Practice 4 ( 4) 777 -779
25
2016
Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.
Zornitza Stark , Amy Nisselle , Belinda McClaren , Fiona Lynch
European Journal of Human Genetics 27 ( 10) 1493 -1501
15
2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Tiong Yang Tan , Sebastian Lunke , Belinda Chong , Dean Phelan
European Journal of Human Genetics 27 ( 12) 1791 -1799
8
2019
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
Lauren S. Akesson , Stefanie Eggers , Clare J. Love , Belinda Chong
European Journal of Human Genetics 27 ( 12) 1821 -1826
7
2019
Clinical genomic testing: what matters to key stakeholders?
Stephanie Best , Zornitza Stark , Peta Phillips , You Wu
European Journal of Human Genetics 28 ( 7) 866 -873
4
2020
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Jane L. Halliday , Cecile Muller , Taryn Charles , Fiona Norris
European Journal of Human Genetics 26 ( 4) 485 -494
9
2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Oliver James Dillon , , Sebastian Lunke , Zornitza Stark
European Journal of Human Genetics 26 ( 5) 644 -651
47
2018
Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.
Shivanthan Shanthikumar , Ajay Kevat , Rachel Stapleton , Sebastian Lunke
Pediatric Pulmonology 55 ( 4) 855 -857
2020
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
Chloe Stutterd , George McGillivray , Zornitza Stark , Betty Messazos
European Journal of Medical Genetics 61 ( 12) 738 -740
2
2018