Jack Goldblatt

Jack Goldblatt

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Jack Goldblatt

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Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Adv Exp Med Biol 2017 ;1031:511-520

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1007/978-3-319-67144-4_27DOI Listing
June 2018

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model.

Blood Cells Mol Dis 2018 02 27;68:232-238. Epub 2017 Jan 27.

Genetic Services & Familial Cancer Program of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2017.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729019PMC
February 2018

Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy.

Blood Cells Mol Dis 2018 02 14;68:14-16. Epub 2017 Sep 14.

Department of Clinical Haematology, Royal Melbourne Hospital and Victorian Comprehensive Cancer Centre, 300 Grattan St, Parkville, VIC 3050, Australia.. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2017.09.003DOI Listing
February 2018

3-Dimensional Facial Analysis-Facing Precision Public Health.

Front Public Health 2017 10;5:31. Epub 2017 Apr 10.

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2017.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385440PMC
April 2017

A Registry Framework Enabling Patient-Centred Care.

Stud Health Technol Inform 2015 ;214:8-14

Public Health Division, Department of Health, Government of Western Australia, Perth, Western Australia.

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December 2016

No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene.

Pediatr Allergy Immunol 2016 11 12;27(7):721-727. Epub 2016 Sep 12.

School of Paediatrics and Child Health, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1111/pai.12612DOI Listing
November 2016

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.

BMC Med Genet 2016 08 17;17(1):60. Epub 2016 Aug 17.

Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-016-0323-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988026PMC
August 2016

MTHFR genetic testing: Controversy and clinical implications.

Aust Fam Physician 2016 Apr;45(4):237-40

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April 2016

Western environment/lifestyle is associated with increased genome methylation and decreased gene expression in Chinese immigrants living in Australia.

Environ Mol Mutagen 2016 Jan 16;57(1):65-73. Epub 2015 Dec 16.

School of Paediatrics and Child Health, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1002/em.21989DOI Listing
January 2016

Longitudinal assessment of airway responsiveness from 1 month to 18 years in the PIAF birth cohort.

Eur Respir J 2015 Dec 22;46(6):1654-61. Epub 2015 Oct 22.

School of Paediatrics and Child Health, University of Western Australia, Perth, Australia Respiratory Medicine, Princess Margaret Hospital, Perth, Australia.

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http://dx.doi.org/10.1183/13993003.00397-2015DOI Listing
December 2015

Recurrent rhinovirus detections in children following a rhinovirus-induced wheezing exacerbation: A retrospective study.

Int J Pediatr Child Health 2015 Aug;3(1):10-18

School of Paediatrics and Child Health, The University of Western Australia, GPO Box D184, Perth, Western Australia, 6840, Australia; Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, Western Australia, 6872, Australia.

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http://dx.doi.org/10.12974/2311-8687.2015.03.01.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181795PMC
August 2015

Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures.

JIMD Rep 2015 3;22:99-106. Epub 2015 Mar 3.

School of Paediatrics and Child Health, University of Western Australia, D184, Perth, WA, 6840, Australia,

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http://dx.doi.org/10.1007/8904_2015_417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486281PMC
July 2015

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

Am J Med Genet A 2015 Jul 6;167(7):1659-67. Epub 2015 Apr 6.

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37070DOI Listing
July 2015

Phenotyping: targeting genotype's rich cousin for diagnosis.

J Paediatr Child Health 2015 Apr 11;51(4):381-6. Epub 2014 Aug 11.

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.12705DOI Listing
April 2015

A longitudinal study of lung function from 1 month to 18 years of age.

Thorax 2014 Nov 2;69(11):1015-20. Epub 2014 Jun 2.

School of Child Health, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1136/thoraxjnl-2013-204931DOI Listing
November 2014

Noninvasive prenatal testing (NIPT) in Western Australia; considerations in clinical practice.

Aust N Z J Obstet Gynaecol 2014 Oct;54(5):487-9

Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/ajo.12232DOI Listing
October 2014

Population-based screening for Lynch syndrome in Western Australia.

Int J Cancer 2014 Sep 24;135(5):1085-91. Epub 2014 Feb 24.

School of Surgery, University of Western Australia, Crawley, WA; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA; School of Paediatrics and Child Health, University of Western Australia, Crawley, WA.

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http://dx.doi.org/10.1002/ijc.28744DOI Listing
September 2014

The Western Australian family connections genealogical project: detection of familial occurrences of single gene and chromosomal disorders.

Genet Test Mol Biomarkers 2014 Feb 9;18(2):77-82. Epub 2014 Jan 9.

1 Neuropsychiatric Epidemiology Research Unit, School of Psychiatry and Clinical Neurosciences, The University of Western Australia , Crawley, Australia .

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http://dx.doi.org/10.1089/gtmb.2013.0254DOI Listing
February 2014

Th2 Cytokine Levels Distort the Association of IL-10 and IFN-γ with Allergic Phenotypes.

ISRN Allergy 2011 28;2011:405813. Epub 2011 Dec 28.

School of Paediatrics and Child Health, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, GPO Box D184, Perth, WA 6840, Australia ; Telethon Institute for Child Health Research and UWA Centre for Child Health Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, GPO Box D184, Perth, WA 6840, Australia.

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http://dx.doi.org/10.5402/2011/405813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658504PMC
June 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.

J Inherit Metab Dis 2013 May 14;36(3):543-53. Epub 2012 Sep 14.

University Research Foundation for Lysosomal Storage Diseases, Inc, Northwest Oncology Hematology Associates PA, Coral Springs, FL 33065, USA.

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http://dx.doi.org/10.1007/s10545-012-9528-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3648688PMC
May 2013

Reduced infant lung function, active smoking, and wheeze in 18-year-old individuals.

JAMA Pediatr 2013 Apr;167(4):368-73

Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.

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http://dx.doi.org/10.1001/jamapediatrics.2013.633DOI Listing
April 2013

Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome.

J Natl Cancer Inst 2013 Feb 5;105(4):274-9. Epub 2013 Feb 5.

Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Level 3, 207 Bouverie St, University of Melbourne, VIC 3010 Australia.

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http://dx.doi.org/10.1093/jnci/djs525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576323PMC
February 2013

Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.

JIMD Rep 2012 15;3:33-43. Epub 2011 Sep 15.

Nephrology Department, Royal Melbourne Hospital, Grattan St, Parkville, VIC, 3050, Australia,

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http://dx.doi.org/10.1007/8904_2011_44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509855PMC
February 2013

The facial evolution: looking backward and moving forward.

Hum Mutat 2013 Jan 2;34(1):14-22. Epub 2012 Nov 2.

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.

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http://dx.doi.org/10.1002/humu.22219DOI Listing
January 2013

Codon 200 mutation of the prion gene: genotype-phenotype correlations.

J Neurol 2012 Dec 15;259(12):2579-84. Epub 2012 May 15.

Neurodegenerative Disorders Research Pty Ltd, 185 York Street, Subiaco, WA 6008, Australia.

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http://dx.doi.org/10.1007/s00415-012-6539-xDOI Listing
December 2012

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.

Br J Haematol 2012 Aug 29;158(4):528-38. Epub 2012 May 29.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-2141.2012.09175.xDOI Listing
August 2012

Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.

Rural Remote Health 2011 22;11(4):1836. Epub 2011 Dec 22.

Genetic Services of Western Australia, Familial Cancer Program, Perth, Western Australia, Australia.

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April 2012

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.

Fam Cancer 2012 Mar;11(1):1-6

Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.

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http://dx.doi.org/10.1007/s10689-011-9494-2DOI Listing
March 2012

A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?

BMJ Case Rep 2011 Sep 19;2011. Epub 2011 Sep 19.

School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.

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http://casereports.bmj.com/cgi/doi/10.1136/bcr.07.2011.4445
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http://dx.doi.org/10.1136/bcr.07.2011.4445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185393PMC
September 2011

Disparity of innate immunity-related gene effects on asthma and allergy on Karelia.

Pediatr Allergy Immunol 2011 Sep 13;22(6):621-30. Epub 2011 Jul 13.

School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.1111/j.1399-3038.2011.01186.xDOI Listing
September 2011

Intersections of epigenetics, twinning and developmental asymmetries: insights into monogenic and complex diseases and a role for 3D facial analysis.

Twin Res Hum Genet 2011 Aug;14(4):305-15

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth.

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http://dx.doi.org/10.1375/twin.14.4.305DOI Listing
August 2011

Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

Cancer Cell 2011 Aug;20(2):200-13

Adult Cancer Program, Lowy Cancer Research Centre, Prince of Wales Clinical School, Faculty of Medicine at the University of New South Wales, NSW 2052, Australia.

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http://dx.doi.org/10.1016/j.ccr.2011.07.003DOI Listing
August 2011

Compliance with professional guidelines with reference to familial cancer services.

Aust N Z J Public Health 2011 Jun 13;35(3):226-30. Epub 2011 Jan 13.

Office of Population Health Genomics, Department of Health, Western Australia, Australia.

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http://dx.doi.org/10.1111/j.1753-6405.2010.00655.xDOI Listing
June 2011

The impact of single gene and chromosomal disorders on hospital admissions in an adult population.

J Community Genet 2011 Jun 2;2(2):81-90. Epub 2011 Mar 2.

Office of Population Health Genomics, Health Department of Western Australia, 3rd Floor C Block, 189 Royal Street, East Perth, WA, 6004, Australia.

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http://dx.doi.org/10.1007/s12687-011-0043-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3186028PMC
June 2011

Fetal oromandibular limb hypogenesis syndrome following uterine curettage in early pregnancy.

Birth Defects Res A Clin Mol Teratol 2011 Apr 1;91(4):226-9. Epub 2011 Apr 1.

Obstetric Clinical Care Unit, King Edward Memorial Hospital, Bagot Road, Western Australia.

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http://dx.doi.org/10.1002/bdra.20798DOI Listing
April 2011

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

Am J Med Genet A 2011 Apr 15;155A(4):717-20. Epub 2011 Mar 15.

Genetic Services of Western Australia, King Edward Memorial Hospital, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33906DOI Listing
April 2011

Socio-demographic disparities in the uptake of prenatal screening and diagnosis in Western Australia.

Aust N Z J Obstet Gynaecol 2011 Feb 6;51(1):9-16. Epub 2010 Dec 6.

Office of Population Health Genomics, Department of Health, Crawley, Western Australia, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2010.01250.xDOI Listing
February 2011

Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia.

Blood Cells Mol Dis 2011 Jan 1;46(1):107-10. Epub 2010 Jun 1.

School of Paediatrics and Child Health, University of Western Australia, Australia.

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http://dx.doi.org/10.1016/j.bcmd.2010.05.002DOI Listing
January 2011

Findings in genome-wide association studies on asthma lack generalisation.

Clin Respir J 2010 Oct;4(4):e8-9

School of Paediatrics and Child Health, Faculty of Medicine, Faculty of Medicine and Dentistry, The University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1111/j.1752-699X.2010.00213.xDOI Listing
October 2010

A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.

Twin Res Hum Genet 2010 Aug;13(4):297-300

Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of Western Australia, Australia.

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http://www.journals.cambridge.org/abstract_S1832427400010665
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http://dx.doi.org/10.1375/twin.13.4.297DOI Listing
August 2010

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

Am J Med Genet A 2010 Apr;152A(4):966-9

Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33264DOI Listing
April 2010

The era of genome-wide association studies: opportunities and challenges for asthma genetics.

J Hum Genet 2009 Nov 9;54(11):624-8. Epub 2009 Oct 9.

Faculty of Medicine and Dentistry, School of Paediatrics and Child Health, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1038/jhg.2009.97DOI Listing
November 2009

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships.

J Maxillofac Oral Surg 2009 Sep 21;8(3):279-82. Epub 2009 Nov 21.

School of Paediatrics and Child Health, University of WA, Perth, Australia.

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http://dx.doi.org/10.1007/s12663-009-0068-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454233PMC
September 2009

Interactions between innate antiviral and atopic immunoinflammatory pathways precipitate and sustain asthma exacerbations in children.

J Immunol 2009 Aug 20;183(4):2793-800. Epub 2009 Jul 20.

Telethon Institute for Child Health Research, and Centre for Child Health Research, Faculty of Medicine and Dentistry, The University of Western Australia, Perth, Western Australia, Australia.

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http://www.jimmunol.org/content/183/4/2793.full.pdf
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http://www.jimmunol.org/cgi/doi/10.4049/jimmunol.0900695
Publisher Site
http://dx.doi.org/10.4049/jimmunol.0900695DOI Listing
August 2009

Leukotriene pathway polymorphisms are associated with altered cysteinyl leukotriene production in children with acute asthma.

Prostaglandins Leukot Essent Fatty Acids 2009 Jul 12;81(1):9-15. Epub 2009 Jun 12.

School of Paediatrics and Child Health, University of Western Australia, GPO Box D184, Perth, WA 6840, Australia.

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http://dx.doi.org/10.1016/j.plefa.2009.05.022DOI Listing
July 2009

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

Am J Med Genet A 2009 Jun;149A(6):1331-3

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.32875
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http://dx.doi.org/10.1002/ajmg.a.32875DOI Listing
June 2009

Childhood asthma and increased airway responsiveness: a relationship that begins in infancy.

Am J Respir Crit Care Med 2009 Jan 31;179(2):98-104. Epub 2008 Oct 31.

School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1164/rccm.200805-804OCDOI Listing
January 2009

First trimester predictors of adverse pregnancy outcomes.

Aust N Z J Obstet Gynaecol 2008 Dec;48(6):529-35

Office of Population Health Genomics, Department of Health, East Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2008.00912.xDOI Listing
December 2008

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.

Am J Med Genet A 2008 Sep;146A(17):2301-3

Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32443DOI Listing
September 2008

Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses.

Vaccine 2008 Jul 27;26(29-30):3574-9. Epub 2008 May 27.

Telethon Institute for Child Health Research and Centre for Child Health Research, Perth, Australia.

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http://dx.doi.org/10.1016/j.vaccine.2008.05.011DOI Listing
July 2008

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

Am J Med Genet A 2008 Jun;146A(12):1565-70

Genetic Services of Western Australia, Princess Margaret Hospital for Children, School of Paediatrics and Child Health, University of WA, Perth, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32095DOI Listing
June 2008

Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score.

AJR Am J Roentgenol 2007 Jun;188(6):1521-8

Department of Radiology, The University of Melbourne, Royal Melbourne Hospital, Grattan St., Parkville, Melbourne, Victoria 3050, Australia.

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http://dx.doi.org/10.2214/AJR.06.1410DOI Listing
June 2007

Parental smoking impairs vaccine responses in children with atopic genotypes.

J Allergy Clin Immunol 2007 Feb 23;119(2):366-74. Epub 2006 Oct 23.

Telethon Institute for Child Health Research, Perth, Australia.

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http://dx.doi.org/10.1016/j.jaci.2006.09.018DOI Listing
February 2007

Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response.

Vaccine 2007 Jan 2;25(2):306-13. Epub 2006 Aug 2.

Department of Paediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.vaccine.2006.07.024DOI Listing
January 2007

Waiver of individual patient consent in research: when do potential benefits to the community outweigh private rights?

Med J Aust 2007 Jan;186(2):88-90

Radiation Oncology, Sir Charles Gairdner Hospital, Perth, WA, Australia.

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January 2007