J. Harraway

发表

Re-examining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.

M. Pertile, L. Hui, J. Halliday, 2021, American journal of obstetrics and gynecology.

E-cadherin germline mutations in familial gastric cancer

Anthony E. Reeve, Parry Guilford, A. Reeve, 1998, Nature.

Dedifferentiated melanoma with MDM2 gene amplification mimicking dedifferentiated liposarcoma.

A. Vargas, A. Gill, F. Maclean, 2021, Pathology.

KRAS mutation testing of metastatic colorectal cancer in Australia: Where are we at?

S. Fox, J. Desai, R. Scott, 2014, Asia-Pacific journal of clinical oncology.

EGFR mutation profile in Australian patients with non-small cell lung cancer.

S. Fox, B. Amanuel, A. Fellowes, 2021, Pathology.

Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Fetal Hydrops at 24 Weeks Gestation

P. J. van der Spek, D. Venter, A. Stubbs, 2016, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

M. Pertile, L. Hui, J. Halliday, 2020, Human reproduction.

Thiopurine methyltransferase and 6‐thioguanine nucleotide measurement: early experience of use in clinical practice

R. Gearry, R. Roberts, M. Barclay, 2005, Internal medicine journal.

Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches

A. Laurie, P. George, A. Fellowes, 2010, Journal of thrombosis and haemostasis : JTH.

A highly informative, multiplexed assay for the indirect detection of hemophilia A using five‐linked microsatellites

P. George, J. Harraway, M. Smith, 2006, Journal of thrombosis and haemostasis : JTH.

Measurement of thiopurine methyl transferase activity guides dose-initiation and prevents toxicity from azathioprine.

R. Gearry, M. Barclay, C. Florkowski, 2005, The New Zealand medical journal.

Autosomal recessive adult-onset hypophosphatasia.

C. Florkowski, J. Harraway, P. George, 2005, Pathology.

Prevalence of the EGFR T790M and other resistance mutations in the Australian population and histopathological correlation in a small subset of cases.

A. Lapuk, A. Vargas, A. Gill, 2020, Pathology.

Complete Penoscrotal Transposition: Case Report and Review of the Literature

J. Harraway, G. Gardener, S. Petersen, 2014, Fetal Diagnosis and Therapy.

Lessons learnt from MDM2 fluorescence in‐situ hybridisation analysis of 439 mature lipomatous lesions with an emphasis on atypical lipomatous tumour/well‐differentiated liposarcoma lacking cytological atypia

A. Vargas, A. Gill, F. Maclean, 2022 .

Dual porphyria with mutations in both the UROD and HMBS genes

C. Florkowski, J. Harraway, P. George, 2006, Annals of clinical biochemistry.

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death

Andrew P. Stubbs, R. Tearle, P. J. van der Spek, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

M. Pertile, L. Hui, J. Halliday, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio‐economic status in Victoria, Australia: A population‐based cohort study from 2015 to 2016

M. Pertile, L. Hui, J. Halliday, 2019, Prenatal diagnosis.

Use of fully denaturing HPLC for UGT1A1 genotyping in Gilbert syndrome.

J. Harraway, P. George, 2005, Clinical chemistry.

Reduced sensitivity for EGFR T790M mutations using the Idylla EGFR Mutation Test

J. Harraway, Eleni Topkas, Eric Lee, 2020, Journal of Clinical Pathology.

DNA extraction from placental, fetal and neonatal tissue at autopsy: what organ to sample for DNA in the genomic era?

D. Venter, J. Harraway, J. Armes, 2019, Pathology.

Non-invasive prenatal testing.

J. Harraway, 2017, Australian family physician.

Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances

J. Harraway, Joseph Thomas, David G. Kirchhoffer, 2021, The Medical journal of Australia.

Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis

D. Venter, J. Harraway, J. Armes, 2016, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy

J. Fullerton, B. Kamien, J. Harraway, 2014, American journal of medical genetics. Part A.

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

R. Turner, J. Harraway, D. Coman, 2022, Pediatric Nephrology.

P16.10: False‐negative NIPT and the role of placental mosaicism

A. Adno, J. Harraway, B. Hollis, 2017 .

The potential utility of single nucleotide polymorphism microarray (SNP array) in low-grade dedifferentiated liposarcomas

A. Vargas, F. Maclean, J. Harraway, 2023, Pathology.