J. Goldblatt

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A flexible computational pipeline for research analyses of unsolved clinical exome cases

T. Groza, T. Lassmann, J. Blackwell, 2020, npj Genomic Medicine.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Peter N. Robinson, A. Philippakis, M. Hurles, 2017, American journal of human genetics.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

The Facial Evolution: Looking Backward and Moving Forward

P. Claes, G. Baynam, H. Dawkins, 2013, Human mutation.

Model consent clauses for rare disease research

B. Knoppers, P. Kaufmann, J. Goldblatt, 2019, BMC Medical Ethics.

An immunoepidemiological approach to asthma: identification of in-vitro T cell response patterns associated with different wheezing phenotypes in children

J. Goldblatt, P. N. Souëf, M. Serralha, 2005, The Lancet.

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

G. Baynam, J. Goldblatt, L. Schofield, 2009, American journal of medical genetics. Part A.

Thoracic Society of Australia and New Zealand annual scientific meeting. Wellington, New Zealand, 6-10 April 1997. Abstracts.

S. Anderson, V. Backer, C. Salome, 1998, Australian and New Zealand journal of medicine.

Association of polymorphisms in the β2-adrenoreceptor gene with higher levels of parasitic infection

P. Burton, J. Goldblatt, K. Tiller, 1999, Human Genetics.

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

G. Baynam, J. Goldblatt, I. Walpole, 2008, American journal of medical genetics. Part A.

Initiating an undiagnosed diseases program in the Western Australian public health system

T. Groza, J. Mattick, J. Beilby, 2017, Orphanet Journal of Rare Diseases.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

P. Kaplan, J. Charrow, H. Andersson, 2004, Seminars in hematology.

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

J. Goldblatt, P. O'Leary, K. Brameld, 2014, Genetic Testing and Molecular Biomarkers.

The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study

J. Goldblatt, H. Leonard, P. O'Leary, 2010, Public Health Genomics.

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

Aung Ko Win, J. Hopper, S. Thibodeau, 2012, Modern Pathology.

Craniosynostosis in Western Australia, 1980-1994: a population-based study.

J. Goldblatt, C. Bower, S. Singer, 1999, American journal of medical genetics.

Age-specific relationship between CD14 and atopy in a cohort assessed from age 8 to 25 years.

B. Toelle, G. Marks, J. Goldblatt, 2004, American journal of respiratory and critical care medicine.

Population screening for cystic fibrosis in Western Australia: community response.

S. Zubrick, J. Goldblatt, C. Bower, 2000, American journal of medical genetics.

Associations between postnatal weight gain, change in postnatal pulmonary function, formula feeding and early asthma

J. Goldblatt, P. L. Le Souëf, S. Turner, 2007, Thorax.

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

S. Easteal, M. Kelaher, G. Baynam, 2017, Advances in experimental medicine and biology.

Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis

M. Woods, J. Hopper, M. Jenkins, 2009, Familial Cancer.

Associations of the IL12B promoter polymorphism in longitudinal data from asthmatic patients 7 to 42 years of age.

J. Goldblatt, N. de Klerk, C. Robertson, 2004, The Journal of allergy and clinical immunology.

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

E. Moses, J. Goldblatt, N. Pachter, 2018, Journal of Translational Medicine.

Colonic Transit Time and IBS Symptoms: What's the Link?

Aung Ko Win, M. Woods, J. Hopper, 2012, The American Journal of Gastroenterology.

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

J. M. Aerts, J. Goldblatt, C. Hollak, 2008, Journal of Inherited Metabolic Disease.

Erratum to: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

M. Woods, J. Hopper, A. de la Chapelle, 2010, International Journal of Colorectal Disease.

Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease

R. Fagerstrom, R. Desnick, J. Goldblatt, 1984, Clinical genetics.

Population‐based screening for Lynch syndrome in Western Australia

M. Levitt, B. Iacopetta, F. Grieu, 2014, International journal of cancer.

Population‐based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

N. Zeps, B. Iacopetta, F. Grieu, 2009, International journal of cancer.

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

P. Sly, P. Holt, G. Baynam, 2008, Vaccine.

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

J. Goldblatt, Guicheng Zhang, B. Hales, 2016, Environmental and molecular mutagenesis.

Findings in genome‐wide association studies on asthma lack generalisation

J. Goldblatt, Guicheng Zhang, P. Lesouëf, 2010, The clinical respiratory journal.

Interactions between Innate Antiviral and Atopic Immunoinflammatory Pathways Precipitate and Sustain Asthma Exacerbations in Children1

P. Sly, W. Thomas, P. Holt, 2009, The Journal of Immunology.

In utero smoke exposure and role of maternal and infant glutathione s-transferase genes on airway responsiveness and lung function in infancy.

J. Goldblatt, Guicheng Zhang, S. Devadason, 2010, American journal of respiratory and critical care medicine.

Maternal Genetic Variants of IL4/IL13 Pathway Genes on IgE With "Western or Eastern Environments/Lifestyles"

E. Vartiainen, T. Haahtela, M. Mäkelä, 2014, Allergy, asthma & immunology research.

A polymorphism of the CC16 gene is associated with an increased risk of asthma.

P. Burton, L. Palmer, J. Goldblatt, 1998, Journal of medical genetics.

Determinants of airway responsiveness to histamine in children

L. Palmer, J. Goldblatt, P. N. Souëf, 2005, European Respiratory Journal.

Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.

B. Iacopetta, F. Grieu, J. Goldblatt, 2007, The Journal of molecular diagnostics : JMD.

Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted

D. Jaffe, V. Mootha, S. Dimauro, 2012 .

Does the relationship between IgE and the CD14 gene depend on ethnicity?

J. Goldblatt, P. Lesouëf, G. Zhang, 2008, Allergy.

Evolution and respiratory genetics

J. Goldblatt, P. N. Souëf, P. L. Le Souëf, 2006, European Respiratory Journal.

Nebulised corticosteroids in the treatment of patients with asthma

J. Goldblatt, P. N. Souëf, P. L. Le Souëf, 1999, Thorax.

IgE and IgG anti-house dust mite specificities in allergic disease.

W. Thomas, J. Goldblatt, B. Hales, 2006, The Journal of allergy and clinical immunology.

Rhinovirus C is associated with wheezing and rhinovirus A is associated with pneumonia in hospitalized children in Morocco

Q. Bassat, D. Lehmann, J. Goldblatt, 2016, Journal of medical virology.

Association between human rhinovirus C and severity of acute asthma in children

Wai-ming Lee, J. Goldblatt, J. Gern, 2010, European Respiratory Journal.

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

P. Holt, J. Goldblatt, Guicheng Zhang, 2011, ISRN allergy.

β2 adrenoceptor Arg16Gly polymorphism, airway responsiveness, lung function and asthma in infants and children

L. Palmer, J. Goldblatt, P. N. Souëf, 2004 .

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

J. Goldblatt, J. Gern, P. N. Souëf, 2015, International journal of pediatrics and child health.

The role of GSTP1 polymorphisms and tobacco smoke exposure in children with acute asthma

J. Goldblatt, Guicheng Zhang, S. Devadason, 2010, The Journal of asthma : official journal of the Association for the Care of Asthma.

The relationship between infant airway function, childhood airway responsiveness, and asthma.

L. Palmer, J. Goldblatt, P. L. Le Souëf, 2004, American journal of respiratory and critical care medicine.

Mutation analysis of interleukin‐5 in an asthmatic cohort

J. Goldblatt, P. L. Le Souëf, P. Rye, 1998, Human mutation.

Association of CD14 Promoter Polymorphism with Otitis Media and Pneumococcal Vaccine Responses

R. Veenhoven, E. Sanders, G. Baynam, 2006, Clinical and Vaccine Immunology.

Association of CD14 Promoter Polymorphism with Otitis Media and Pneumococcal Vaccine Responses

R. Veenhoven, E. Sanders, G. Baynam, 2006, Clinical and Vaccine Immunology.

Acute asthma in children: relationship between CD14 and CC16 genotype, plasma levels and severity

J. Goldblatt, L. Teoh, Guicheng Zhang, 2005 .

Human rhinovirus species C infection in young children with acute wheeze is associated with increased acute respiratory hospital admissions.

Wai-ming Lee, J. Goldblatt, J. Gern, 2013, American journal of respiratory and critical care medicine.

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

J. Goldblatt, P. L. Le Souëf, S. Turner, 2009, American journal of respiratory and critical care medicine.

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

J. Charrow, J. Goldblatt, C. Hollak, 2012, Journal of Inherited Metabolic Disease.

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

G. Baynam, J. Goldblatt, 2009, Journal of maxillofacial and oral surgery.

The Impact of Antenatal Screening for Down Syndrome in Western Australia: 1980–1994

J. Goldblatt, P. O'Leary, C. Bower, 1996, The Australian & New Zealand journal of obstetrics & gynaecology.

Mutation screening of interferon‐gamma (IFNγ) as a candidate gene for asthma

J. Goldblatt, P. Lesouëf, N. Gibson, 1997 .

Symptomatic viral infection is associated with impaired response to treatment in children with acute asthma.

J. Goldblatt, Guicheng Zhang, P. L. Le Souëf, 2012, The Journal of pediatrics.

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

J. Goldblatt, Guicheng Zhang, P. L. Le Souëf, 2009, Prostaglandins, leukotrienes, and essential fatty acids.

Investigations into the role of ST2 in acute asthma in children.

W. Thomas, J. Goldblatt, P. N. Souëf, 2009, Tissue antigens.

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

J. Goldblatt, D. Cox, Guicheng Zhang, 2015, European Respiratory Journal.

CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis

J. Goldblatt, I. Laing, P. Sly, 2005, Respiratory research.

CD 14 C-159 T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis

J. Goldblatt, I. Laing, P. Sly, 2005 .

beta2 adrenoceptor Arg16Gly polymorphism, airway responsiveness, lung function and asthma in infants and children.

L. Palmer, J. Goldblatt, P. L. Le Souëf, 2004, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Early‐onset atopy is associated with enhanced lymphocyte cytokine responses in 11‐year‐old children

J. Goldblatt, P. N. Souëf, M. Serralha, 2007, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Evolutionary adaptation of inflammatory immune responses in human beings

J. Goldblatt, N. Lynch, P. L. Souëf, 2000, The Lancet.

Association between asthma-related phenotypes and the CC16 A38G polymorphism in an unselected population of young adult Danes

C. Porsbjerg, V. Backer, J. Goldblatt, 2005, Immunogenetics.

The effect of age on the relationship between birth order and immunoglobulin E sensitization

S. W. Turner, J. Goldblatt, P. L. Le Souëf, 2005, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

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

J. Goldblatt, I. Walpole, Jillian Hyatt, 2011, American journal of medical genetics. Part A.

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

J. Goldblatt, A. Dixit, A. Sarkar, 2022, Scientific Reports.

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

J. Goldblatt, N. Poplawski, B. Wilcken, 2001, The European respiratory journal.

A Child With an FGFR3 Mutation, a Laterality Disorder and an Hepatoblastoma: Novel Associations and Possible Gene–Environment Interactions

G. Baynam, J. Goldblatt, 2010, Twin Research and Human Genetics.

First trimester predictors of adverse pregnancy outcomes

J. Goldblatt, P. O'Leary, K. Brameld, 2008, The Australian & New Zealand journal of obstetrics & gynaecology.

Skeletal complications of type I Gaucher disease: the magnetic resonance features.

J. Goldblatt, B. Cremin, H. Davey, 1990, Clinical radiology.

Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy.

G. Hermann, R. Desnick, J. Goldblatt, 1986, AJR. American journal of roentgenology.

Genetic Heterogeneity of Gaucher Disease: Enzymatic and Immunologic Studies

R. Desnick, J. Goldblatt, S. Gatt, 1986 .

Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.

R. Desnick, J. Goldblatt, S. Gatt, 1985, American journal of medical genetics.

Acute asthma in children: Relationships among CD14 and CC16 genotypes, plasma levels, and severity.

J. Goldblatt, L. Teoh, Guicheng Zhang, 2006, American journal of respiratory and critical care medicine.

Prevalence of Atopy/Asthma Associated Alleles in 7 Different Populations

I. Hall, V. Backer, A. James, 2003 .

Respiratory viruses in young South African children with acute lower respiratory infections and interactions with HIV

David W. Smith, D. Lehmann, J. Goldblatt, 2016, Journal of Clinical Virology.

Phenotype and Polyp Landscape in Serrated Polyposis Syndrome: A Series of 100 Patients From Genetics Clinics

Aung Ko Win, J. Hopper, W. Frankel, 2012, The American journal of surgical pathology.

Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study

Aung Ko Win, M. Woods, J. Hopper, 2010, International Journal of Colorectal Disease.

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

G. Baynam, J. Goldblatt, S. Townshend, 2006, Clinical dysmorphology.

Interactions between Innate Antiviral and Atopic Immunoinflammatory Pathways Precipitate and Sustain Asthma Exacerbations in Children1

Anthony Bosco, Peter D Sly, Jack Goldblatt, 2009, The Journal of Immunology.

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

J. Goldblatt, C. Hollak, M. Cappellini, 2012, British journal of haematology.

Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study

J. Goldblatt, A. Mallett, Mark Thomas, 2020, Orphanet Journal of Rare Diseases.

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

B. Iacopetta, F. Grieu, J. Goldblatt, 2012, Hereditary Cancer in Clinical Practice.

Interleukin-10 (IL-10) Polymorphisms Are Associated with IL-10 Production and Clinical Malaria in Young Children

P. Alonso, J. Goldblatt, C. Guinovart, 2012, Infection and Immunity.

Plasma advanced oxidative protein products are associated with anti-oxidative stress pathway genes and malaria in a longitudinal cohort

P. Alonso, O. Skorokhod, T. Marrocco, 2014, Malaria Journal.

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

J. Goldblatt, P. O'Leary, K. Brameld, 2011, The Australian & New Zealand journal of obstetrics & gynaecology.

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

T. Haahtela, M. Mäkelä, S. Jamieson, 2016, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.

J. Goldblatt, J. Barranger, I. Jansen, 1991, Biochimica et biophysica acta.

Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

P. Claes, G. Baynam, J. Goldblatt, 2011, Twin Research and Human Genetics.

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

J. Fletcher, J. Szer, Meredith Wilson, 2011, Blood cells, molecules & diseases.

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

N. Zeps, J. Szer, M. Bellgard, 2018, Blood cells, molecules & diseases.

Rate of X chromosome aneuploidy in young fertile women: Comparison of cultured and uncultured cell preparations using fluorescence in situ hybridisation

J. Goldblatt, D. Doherty, N. Hadlow, 2010, The Australian & New Zealand journal of obstetrics & gynaecology.

The role of parasites in genetic susceptibility to allergy

Jack Goldblatt, J. Goldblatt, P. N. Souëf, 2004, Clinical reviews in allergy & immunology.

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

R. Ward, J. Goldblatt, L. Khachigian, 2011, Cancer cell.

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.

Aung Ko Win, G. Giles, J. Hopper, 2014, Gastroenterology.

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

Gareth Baynam, Jack Goldblatt, Lyn Schofield, 2015, American journal of medical genetics. Part A.

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

G. Baynam, J. Goldblatt, N. Smith, 2008, American journal of medical genetics. Part A.

Screening for defective DNA mismatch repair in stage II and III colorectal cancer patients.

N. Zeps, B. Iacopetta, D. Joseph, 2004, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.

Aung Ko Win, G. Giles, J. Hopper, 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

J. Potter, J. Hopper, S. Thibodeau, 2010, Clinical Cancer Research.

Evaluation of a project to enhance knowledge of hereditary diseases and management.

J. Goldblatt, C. Bower, I R Walpole, 1997, Journal of medical genetics.

Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Finlay Macrae, John L Hopper, Loic Le Marchand, 2010, Journal of the National Cancer Institute.

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Matthew I. Bellgard, Christopher E. Mason, Alan H. Bittles, 2014 .

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

J. Potter, D. Duggan, J. Hopper, 2010, Familial Cancer.

Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis.

B. Leggett, J. Jass, L. Simms, 2001, The American journal of pathology.

The importance of environment on respiratory genotype/phenotype relationships in the Inuit

C. Porsbjerg, V. Backer, G. Baynam, 2010, Allergy.

Associations of a novel IL4RA polymorphism, Ala57Thr, in Greenlander Inuit.

I. Hall, C. Porsbjerg, V. Backer, 2006, The Journal of allergy and clinical immunology.

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

R. Veenhoven, E. Sanders, G. Baynam, 2007, Vaccine.

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

John L Hopper, Edward Edkins, Phyllis N Butow, 2006, Breast Cancer Research.

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Timo Lassmann, Gareth Baynam, Tarun Weeramanthri, 2016, Orphanet Journal of Rare Diseases.

Evaluating Genetic Counseling: Client Expectations, Psychological Adjustment and Satisfaction with Service

J. Goldblatt, P. O'Leary, K. Harrop, 2005, Journal of Genetic Counseling.

Phenotyping: Targeting genotype's rich cousin for diagnosis

Tudor Groza, Michael Brudno, Peter Claes, 2014, Journal of paediatrics and child health.

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

D. Jaffe, V. Mootha, S. Dimauro, 2012, Science Translational Medicine.

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

J. Goldblatt, Guicheng Zhang, P. Lesouëf, 2009, Journal of Human Genetics.

Association between plasma CC16 levels, the A38G polymorphism, and asthma.

P. Burton, C. Hermans, J. Goldblatt, 2000, American journal of respiratory and critical care medicine.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Gloria L. Porras-Hurtado, A. Drake, D. Chitayat, 2021, Nature Communications.

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

J. Goldblatt, D. Cox, P. L. Le Souef, 2014, Thorax.

Substantial unexplained variation in cancer risks for MLH1 and MSH2 mutation carriers

Aung Ko Win, G. Giles, J. Hopper, 2012, Human mutation.

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

J. Goldblatt, P. O'Leary, K. Brameld, 2011, Journal of Community Genetics.

A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders.

P. Claes, G. Baynam, J. Goldblatt, 2013, JIMD reports.

First-Trimester Combined Screening for Down Syndrome and Other Fetal Anomalies

J. Goldblatt, P. O'Leary, C. Bower, 2006, Obstetrics and gynecology.

Linkage of chromosome 5q and 11q gene markers to asthma-associated quantitative traits in Australian children.

P. Burton, L. Palmer, J. Goldblatt, 1998, American journal of respiratory and critical care medicine.

MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.

Megan Hitchins, Rodney Scott, Ian Tomlinson, 2005, Gastroenterology.

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

Aung Ko Win, G. Giles, J. Hopper, 2013, Journal of the National Cancer Institute.

Kümmell disease: delayed collapse of the traumatised spine in a patient with Gaucher type 1 disease.

G. Hermann, R. Desnick, J. Goldblatt, 1984, The British journal of radiology.

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

J. Charrow, J. Goldblatt, C. Hollak, 2013, Journal of Inherited Metabolic Disease.

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

J. Goldblatt, M. Maas, P. Robertson, 2007, AJR. American journal of roentgenology.

Interruption of enzyme replacement therapy in Gaucher disease.

J. Fletcher, J. Szer, J. Goldblatt, 2016, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

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

J. Szer, J. Goldblatt, A. Zimran, 2018, Blood cells, molecules & diseases.

MTHFR genetic testing: Controversy and clinical implications.

J. Goldblatt, S. Long, 2016, Australian family physician.

β2-Adrenoceptor Polymorphisms Predict Response to β2-Agonists in Children with Acute Asthma

J. Goldblatt, Guicheng Zhang, P. L. Le Souëf, 2008, The Journal of asthma : official journal of the Association for the Care of Asthma.

Cross‐sectional and longitudinal association of the secretoglobin 1A1 gene A38G polymorphism with asthma phenotype in the Perth Infant Asthma Follow‐up cohort

J. Goldblatt, P. L. Le Souëf, L. Landau, 2009, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.

Aung Ko Win, L. Lipton, G. Giles, 2012, Journal of the National Cancer Institute.

Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins

J. Hopper, M. Cummings, M. Jenkins, 2013, Modern Pathology.

Rhinovirus species and clinical features in children hospitalised with pneumonia from Mozambique

Q. Bassat, D. Lehmann, M. Lanaspa, 2016, Tropical medicine & international health : TM & IH.

Human Rhinovirus is the Most Commonly Identified Respiratory Virus in Children 1 Hospitalized with Pneumonia from Mozambique 2 3

Q. Bassat, D. Lehmann, M. Lanaspa, 2016 .

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

J. Goldblatt, A. Charles, J. Dickinson, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Risk Factors for Colorectal Cancer in Patients with Multiple Serrated Polyps: A Cross-Sectional Case Series from Genetics Clinics

Aung Ko Win, D. English, J. Potter, 2010, PloS one.

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

B. Iacopetta, J. Goldblatt, L. Schofield, 2011, Rural and remote health.

Anti‐bacterial IgE in the antibody responses of house dust mite allergic children convalescent from asthma exacerbation

W. Thomas, J. Goldblatt, P. McMinn, 2009, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

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

B. Iacopetta, F. Grieu, J. Goldblatt, 2012, Familial Cancer.

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

Nikolajs Zeps, Jack Goldblatt, Lyn Schofield, 2007, The Medical journal of Australia.

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

Aung Ko Win, G. Giles, J. Hopper, 2011, Journal of Medical Genetics.

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

D. Sillence, J. Fletcher, J. Goldblatt, 2012, JIMD reports.

Multiplicity and Molecular Heterogeneity of Colorectal Carcinomas in Individuals With Serrated Polyposis

Aung Ko Win, J. Hopper, W. Frankel, 2013, The American journal of surgical pathology.

Economic Evaluation of the Familial Cancer Programme in Western Australia: Predictive Genetic Testing for Familial Adenomatous Polyposis and Hereditary Non-Polyposis Colorectal Carcinoma

J. Goldblatt, P. O'Leary, E. Geelhoed, 2006, Public Health Genomics.

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

Aung Ko Win, D. Duggan, G. Giles, 2013, European journal of cancer.

A pilot study of trimodality breast imaging surveillance in young women at high risk of breast cancer in Western Australia

J. Goldblatt, A. Chan, E. Wylie, 2009, The Medical journal of Australia.

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

J. Goldblatt, S. Long, 2014, The Australian & New Zealand journal of obstetrics & gynaecology.

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

P. Claes, G. Baynam, J. Goldblatt, 2015, JIMD reports.

Cost-effectiveness of predictive genetic tests for familial breast and ovarian cancer

J. Goldblatt, P. O'Leary, E. Geelhoed, 2005, Genomics, society, and policy.

Association of haplotypes of β2‐adrenoceptor polymorphisms with lung function and airway responsiveness in a pediatric cohort

J. Goldblatt, P. N. Souëf, Guicheng Zhang, 2006 .

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome

J. Goldblatt, E. Edkins, A. Murch, 2000, Clinical genetics.

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

E. Moses, J. Goldblatt, N. Pachter, 2018, Journal of Translational Medicine.

Parental smoking impairs vaccine responses in children with atopic genotypes.

P. Sly, P. Holt, G. Baynam, 2007, The Journal of allergy and clinical immunology.

Opposite gene by environment interactions in Karelia for CD14 and CC16 single nucleotide polymorphisms and allergy

E. Vartiainen, T. Haahtela, M. Mäkelä, 2009, Allergy.

Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype.

J. Goldblatt, A. Jequier, J. Cummins, 1998, International journal of andrology.

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

E. Vartiainen, T. Haahtela, T. Laatikainen, 2011, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

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

G. Baynam, J. Goldblatt, C. Kiraly-Borri, 2010, American journal of medical genetics. Part A.

Regulatory role of IL10 genetic variations in determining allergen-induced T(H)2 cytokine responses in children.

P. Holt, J. Goldblatt, Guicheng Zhang, 2011, The Journal of allergy and clinical immunology.

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer

J. Hui, Alexia L. Weeks, J. Goldblatt, 2016, BMC Medical Genetics.

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

J. Goldblatt, D. Cox, P. L. Le Souëf, 2013, JAMA pediatrics.

Model consent clauses for rare disease research

B. Knoppers, P. Kaufmann, J. Goldblatt, 2019, BMC medical ethics.

Reply to letter to the editor by Wilkie—“Epidemiology and genetics of craniosynostosis”

J. Goldblatt, C. Bower, S. Singer, 2000 .

Opposite gene by environment interactions in Karelia for CD14 and CC16 SNPs and allergy

E. Vartiainen, T. Haahtela, M. Mäkelä, 2009 .

Mutation screening of interferon-gamma (IFNgamma) as a candidate gene for asthma.

L. Palmer, J. Goldblatt, P. Lesouëf, 1997, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Magnetic resonance findings in women at high risk for developing breast cancer: An Australian feasibility study

J. Goldblatt, A. Chan, E. Wylie, 2008, Journal of medical imaging and radiation oncology.

PCR versus immunohistochemistry for microsatellite instability.

R. Broaddus, B. Iacopetta, W. Samowitz, 2008, The Journal of molecular diagnostics : JMD.

Genome-wide association study identifies novel breast cancer susceptibility loci

Lester L. Peters, A. Uitterlinden, D. Cox, 2007, Nature.

Autosomal dominant osteopetrosis type II with “malignant” presentation: further support for heterogeneity?

J. Goldblatt, A. Nicoll, I. Walpole, 1990, Clinical genetics.

Association of polymorphisms within the tumour necrosis factor (TNF) genes and childhood asthma

P. Burton, L. Palmer, J. Goldblatt, 1998, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Cancer risks for relatives of patients with serrated polyposis.

Aung Ko Win, M. Woods, J. Hopper, 2012, The American journal of gastroenterology.

The Disclosure of Genetic Information: A Human Research Ethics Perspective

J. Goldblatt, P. O'Leary, B. McNamara, 2010 .

Plasma advanced oxidative protein products are associated with anti-oxidative stress pathway genes and malaria in a longitudinal cohort

P. Alonso, O. Skorokhod, T. Marrocco, 2014, Malaria Journal.

A Registry Framework Enabling Patient-Centred Care.

Lee Render, Maciej Radochonski, Tarun Weeramanthri, 2015, Studies in health technology and informatics.

β2-Adrenoceptor polymorphisms and asthma phenotypes: interactions with passive smoking

J. Goldblatt, S. Stick, P. N. Souëf, 2007, European Respiratory Journal.

Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.

Aung Ko Win, L. Lipton, G. Giles, 2012, Journal of the National Cancer Institute.

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

Aung Ko Win, D. Duggan, G. Giles, 2013, European journal of cancer.

Exacerbations in Children Precipitate and Sustain Asthma Atopic Immunoinflammatory Pathways Interactions between Innate Antiviral And

P. Sly, W. Thomas, P. Holt, 2022 .

Genome screen and candidate gene studies in parasitized populations.

J. Goldblatt, P. Lesouëf, N. Lynch, 1999, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

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

R. Ward, J. Goldblatt, L. Khachigian, 2011, Cancer cell.

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

P. Sly, P. Holt, G. Baynam, 2008, Vaccine.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

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

J. Goldblatt, C. Hollak, M. Cappellini, 2012, British journal of haematology.

Eastern Vs. Western Environments: Different Genetic Profiles Associated With Asthma And Allergy

T. Haahtela, M. Mäkelä, J. Goldblatt, 2010, ATS 2010.

The Internet and the changing roles of doctors, patients and families

P. Pemberton, J. Goldblatt, P J Pemberton, 1998, The Medical journal of Australia.

Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

N. Laing, J. Goldblatt, S. Wilton, 1993, Prenatal Diagnosis.

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

G. Baynam, J. Goldblatt, I. Walpole, 2008, American journal of medical genetics. Part A.

Compliance with professional guidelines with reference to familial cancer services

J. Goldblatt, P. O'Leary, K. Brameld, 2011, Australian and New Zealand journal of public health.