Zornitza Stark

Zornitza Stark

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Zornitza Stark

Publications by authors named "Zornitza Stark"

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Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

J Paediatr Child Health 2019 Nov 12;55(11):1309-1314. Epub 2019 Feb 12.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.14398DOI Listing
November 2019

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.

Genet Med 2019 Nov 21;21(11):2586-2593. Epub 2019 May 21.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1038/s41436-019-0534-xDOI Listing
November 2019

IREB2-associated neurodegeneration.

Brain 2019 Aug;142(8):e40

Murdoch Children's Research Institute, Flemington Rd, Parkville, Australia.

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http://dx.doi.org/10.1093/brain/awz183DOI Listing
August 2019

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Am J Hum Genet 2019 Jul;105(1):7-14

Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612707PMC
July 2019

Outcomes Following Treatment of Maternal Hypercalcemia Due to Pathogenic Variants.

Kidney Int Rep 2019 Jun 8;4(6):888-892. Epub 2019 Mar 8.

Department of Obstetrics and Gynaecology, Mercy Hospital for Women, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ekir.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551508PMC
June 2019

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.

J Genet Couns 2019 Apr 21;28(2):273-282. Epub 2019 Jan 21.

Australian Genomics Health Alliance, Melbourne, Australia.

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http://dx.doi.org/10.1002/jgc4.1086DOI Listing
April 2019

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

Genes (Basel) 2019 04 5;10(4). Epub 2019 Apr 5.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.3390/genes10040279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523498PMC
April 2019

Renal genetics in Australia: Kidney medicine in the genomic age.

Nephrology (Carlton) 2019 Mar 18;24(3):279-286. Epub 2018 Oct 18.

KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/nep.13494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587832PMC
March 2019

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

Genet Med 2019 02 12;21(2):498-504. Epub 2018 Jun 12.

Centre of Genomics and Policy, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/s41436-018-0055-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752673PMC
February 2019

Rare cause of maternal and neonatal hypercalcaemia.

J Paediatr Child Health 2019 Feb 15;55(2):232-235. Epub 2018 Sep 15.

Department of Paediatrics, University of Melbourne, Australia.

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http://dx.doi.org/10.1111/jpc.14219DOI Listing
February 2019

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care.

Pediatrics 2019 Jan;143(Suppl 1):S14-S21

Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1542/peds.2018-1099DDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379057PMC
January 2019

Integrating Genomics into Healthcare: A Global Responsibility.

Am J Hum Genet 2019 01;104(1):13-20

Australian Genomics Health Alliance, Melbourne VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia; Global Alliance for Genomics and Health, 661 University Avenue, Suite 510, Toronto, ON M5G 0A3, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323624PMC
January 2019

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

Eur J Med Genet 2018 Dec 5;61(12):738-740. Epub 2018 Jun 5.

Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.002DOI Listing
December 2018

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Hum Mutat 2018 12 17;39(12):1995-2007. Epub 2018 Sep 17.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.23639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240357PMC
December 2018

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

J Allergy Clin Immunol Pract 2016 Jul-Aug;4(4):777-9. Epub 2016 Apr 23.

The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.jaip.2016.02.015DOI Listing
August 2018

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Am J Med Genet A 2018 01 12;176(1):75-81. Epub 2017 Nov 12.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38516DOI Listing
January 2018

Meeting report of the 2017 KidGen Renal Genetics Symposium.

Hum Genomics 2018 01 30;12(1). Epub 2018 Jan 30.

KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Melbourne, Australia.

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http://dx.doi.org/10.1186/s40246-018-0137-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791341PMC
January 2018

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Am J Med Genet A 2017 Nov 25;173(11):3003-3012. Epub 2017 Sep 25.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.38492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555908PMC
November 2017

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

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

J Med Ethics 2016 10 8;42(10):640-2. Epub 2016 Jun 8.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia Victorian Clinical Genetics Services, Parkville, Victoria, Australia University of Melbourne, Parkville, Victoria, Australia Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1136/medethics-2016-103400DOI Listing
October 2016

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

Am J Med Genet A 2016 Mar 8;170(3):773-6. Epub 2016 Jan 8.

Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37501DOI Listing
March 2016

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Am J Med Genet A 2016 Feb 27;170A(2):531-535. Epub 2015 Nov 27.

Care4Rare Canada Consortium, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37402DOI Listing
February 2016

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Hum Mutat 2015 Dec 10;36(12):1176-87. Epub 2015 Sep 10.

Department of Biochemistry and Biophysics, University of Rochester School of Medicine, Rochester, New York, 14642.

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http://dx.doi.org/10.1002/humu.22897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643400PMC
December 2015

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.

Prenat Diagn 2015 Dec 14;35(12):1265-7. Epub 2015 Oct 14.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/pd.4690DOI Listing
December 2015

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

Am J Med Genet A 2015 Nov 14;167A(11):2685-90. Epub 2015 May 14.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37155DOI Listing
November 2015

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Am J Med Genet A 2015 Oct 18;167A(10):2485-7. Epub 2015 May 18.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37163DOI Listing
October 2015

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Am J Med Genet A 2015 Oct 8;167A(10):2319-26. Epub 2015 Jun 8.

Newborn Intensive Care Unit, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37177DOI Listing
October 2015

Metronidazole Toxicity in Cockayne Syndrome: A Case Series.

Pediatrics 2015 Sep;136(3):e706-8

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1542/peds.2015-0531DOI Listing
September 2015

Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Genome Med 2015 10;7(1):68. Epub 2015 Jul 10.

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Walter and Eliza Hall Institute, Parkville, VIC 3052 Australia.

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http://dx.doi.org/10.1186/s13073-015-0191-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515933PMC
July 2015

Apert syndrome: temporal lobe abnormalities on fetal brain imaging.

Prenat Diagn 2015 Feb 13;35(2):179-82. Epub 2014 Nov 13.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Fetal Medicine Unit, Royal Women's Hospital, Melbourne, Australia; Maternal Fetal Medicine, Sunshine Hospital, Western Health, Melbourne, Australia.

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http://dx.doi.org/10.1002/pd.4515DOI Listing
February 2015

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

Am J Med Genet A 2015 Feb 30;167A(2):394-9. Epub 2014 Oct 30.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36838DOI Listing
February 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Mol Syndromol 2014 Dec 8;5(6):276-86. Epub 2014 Nov 8.

Murdoch Childrens Research Institute, Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Vic., Australia ; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1159/000368865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281577PMC
December 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

Am J Med Genet A 2013 Oct 15;161A(10):2604-8. Epub 2013 Aug 15.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia; University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36108DOI Listing
October 2013

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

Twin Res Hum Genet 2013 Apr 21;16(2):601-7. Epub 2013 Jan 21.

Genetic Health Services Victoria, Parkville VIC, Australia.

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http://dx.doi.org/10.1017/thg.2012.152DOI Listing
April 2013

Ethical controversies in prenatal microarray.

Curr Opin Obstet Gynecol 2013 Apr;25(2):133-7

Victorian Clinical Genetics Service and Murdoch Children's Research Institute, Victoria, Australia.

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http://dx.doi.org/10.1097/GCO.0b013e32835ebb67DOI Listing
April 2013

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.

Eur J Med Genet 2013 Jan 17;56(1):36-8. Epub 2012 Oct 17.

Victorian Clinical Genetics Service, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.001DOI Listing
January 2013

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

Eur J Hum Genet 2011 Jul 16;19(7):753-6. Epub 2011 Feb 16.

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://www.nature.com/articles/ejhg201111
Publisher Site
http://dx.doi.org/10.1038/ejhg.2011.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137491PMC
July 2011

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.

Australas J Dermatol 2011 Feb;52(1):48-51

Department of Dermatology, The Royal Children's Hospital, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-0960.2010.00662.xDOI Listing
February 2011

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Am J Med Genet A 2010 Sep;152A(9):2342-5

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33590DOI Listing
September 2010

Osteopetrosis.

Orphanet J Rare Dis 2009 Feb 20;4. Epub 2009 Feb 20.

Genetic Health Services Victoria, and Murdoch Childrens Research Institute, Melbourne, Australia.

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https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-
Publisher Site
http://dx.doi.org/10.1186/1750-1172-4-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654865PMC
February 2009

Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: audit of current practice.

J Paediatr Child Health 2008 Jul-Aug;44(7-8):399-403

Department of Clinical Quality and Safety, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2008.01352.xDOI Listing
August 2008

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

J Pediatr Surg 2007 Jun;42(6):1146-8

Neonatal Unit, Royal Children's Hospital, Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.jpedsurg.2007.01.044DOI Listing
June 2007