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Author Details

Jack Goldblatt
King Edward Memorial Hospital for Women
1978
245
50
PMIDPaper TitleJournal TitlePublished Year
35338222Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.Sci Rep2022
34344887Haploinsufficiency of SF3B2 causes craniofacial microsomia.Nat Commun2021
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
31931840Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study.Orphanet J Rare Dis2020
28935503Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy.Blood Cells Mol Dis2018
28190666Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model.Blood Cells Mol Dis2018
29482591Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.J Transl Med2018
27677921Rhinovirus C is associated with wheezing and rhinovirus A is associated with pneumonia in hospitalized children in Morocco.J Med Virol2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
284432723-Dimensional Facial Analysis-Facing Precision Public Health.Front Public Health2017
29214589Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.Adv Exp Med Biol2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
27052143MTHFR genetic testing: Controversy and clinical implications.Aust Fam Physician2016
26671525Western environment/lifestyle is associated with increased genome methylation and decreased gene expression in Chinese immigrants living in Australia.Environ Mol Mutagen2016
27530615HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.BMC Med Genet2016
27353724Rhinovirus species and clinical features in children hospitalised with pneumonia from Mozambique.Trop Med Int Health2016
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
27317881Respiratory viruses in young South African children with acute lower respiratory infections and interactions with HIV.J Clin Virol2016
27434019No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene.Pediatr Allergy Immunol2016
27245534Interruption of enzyme replacement therapy in Gaucher disease.S Afr Med J2016
25109851Phenotyping: targeting genotype's rich cousin for diagnosis.J Paediatr Child Health2015
26493795Longitudinal assessment of airway responsiveness from 1 month to 18 years in the PIAF birth cohort.Eur Respir J2015
28018912Recurrent rhinovirus detections in children following a rhinovirus-induced wheezing exacerbation: A retrospective study.Int J Pediatr Child Health2015
26210411A Registry Framework Enabling Patient-Centred Care.Stud Health Technol Inform2015
25851998A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.Am J Med Genet A2015
25732999Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures.JIMD Rep2015
24405042The Western Australian family connections genealogical project: detection of familial occurrences of single gene and chromosomal disorders.Genet Test Mol Biomarkers2014
25287567Noninvasive prenatal testing (NIPT) in Western Australia; considerations in clinical practice.Aust N Z J Obstet Gynaecol2014
24991459Maternal Genetic Variants of IL4/IL13 Pathway Genes on IgE With "Western or Eastern Environments/Lifestyles".Allergy Asthma Immunol Res2014
24891326A longitudinal study of lung function from 1â¿¿month to 18â¿¿years of age.Thorax2014
24693973Plasma advanced oxidative protein products are associated with anti-oxidative stress pathway genes and malaria in a longitudinal cohort.Malar J2014
24474394Population-based screening for Lynch syndrome in Western Australia.Int J Cancer2014
24444654Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.Gastroenterology2014
22976765Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.J Inherit Metab Dis2013
23992536Human rhinovirus species C infection in young children with acute wheeze is associated with increased acute respiratory hospital admissions.Am J Respir Crit Care Med2013
23654213Predictive gene testing for Huntington disease and other neurodegenerative disorders.Intern Med J2013
23385444Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome.J Natl Cancer Inst2013
23434150Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?Eur J Cancer2013
23430517A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders.JIMD Rep2013
23505205Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Hum Mutat2013
23255516Cancer risks for MLH1 and MSH2 mutation carriers.Hum Mutat2013
23211288Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis.Am J Surg Pathol2013
23370770Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins.Mod Pathol2013
23033261The facial evolution: looking backward and moving forward.Hum Mutat2013
21855894Symptomatic viral infection is associated with impaired response to treatment in children with acute asthma.J Pediatr2012
23430871Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.JIMD Rep2012
22933731Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.J Natl Cancer Inst2012
22510757Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics.Am J Surg Pathol2012
22525305Cancer risks for relatives of patients with serrated polyposis.Am J Gastroenterol2012
  • 1 - 50 of 245

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Collaborators

Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 27
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 13
Steven Gallinger
Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto
Co-authored papers 13
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 11
Graeme Suthers
University of Adelaide
Co-authored papers 11
Jennie Slee
King Edward Memorial Hospital
Co-authored papers 11
Noralane M Lindor
Mayo Clinic
Co-authored papers 10
Graham G Giles
Co-authored papers 9
Robert W Haile
Co-authored papers 9
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 9
John A Baron
University of North Carolina at Chapel Hill
Co-authored papers 9
Loic Le Marchand
Co-authored papers 8
Lyle J Palmer
Co-authored papers 8
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 8
Kerry Phillips
Royal Adelaide Hospital
Co-authored papers 7
Tarun Weeramanthri
University of Western Australia
Co-authored papers 6
Stephen N Thibodeau
Mayo Clinic
Co-authored papers 6
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers 6
James E Gern
University of Wisconsin School of Medicine and Public Health
Co-authored papers 6
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 5
Kevin Sweet
College of Medicine, The Ohio State University
Co-authored papers 5
Caron Molster
Public Health and Clinical Services Division
Co-authored papers 5
John Beilby
University of Western Australia
Co-authored papers 5
Albert de la Chapelle
The Ohio State University Comprehensive Cancer Center
Co-authored papers 4
Tudor Groza
Perth Children's Hospital
Co-authored papers 4
Caroline E Walker
University of London
Co-authored papers 4
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers 4
Anne Hawkins
Stanford University School of Medicine
Co-authored papers 4
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 4
Nikolajs Zeps
Queensland University of Technology
Co-authored papers 4
Release 1.2