1. A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome. (December 2015) Authors: McGown, Ivan; Williams, Mark; McManus, Sam; Huynh, Tony; Harraway, James Journal: International journal of pediatric endocrinology Issue: Volume 2015(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort. Issue 3 (24th March 2020) Authors: Hui, Lisa; Poulton, Alice; Kluckow, Eliza; Lindquist, Anthea; Hutchinson, Briohny; Pertile, Mark D; Bonacquisto, Leonard; Gugasyan, Lucy; Kulkarni, Abhijit; Harraway, James; Howden, Amanda; McCoy, Richard; Costa, Fabricio Da Silva; Menezes, Melody; Palma-Dias, Ricardo; Nisbet, Debbie; Martin, Nic... Journal: Human reproduction Issue: Volume 35:Issue 3(2020) Page Start: 694 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death. (January 2018) Authors: Armes, Jane E; Williams, Mark; Price, Gareth; Wallis, Tristan; Gallagher, Renee; Matsika, Admire; Joy, Christopher; Galea, Melanie; Gardener, Glenn; Leach, Rick; Swagemakers, Sigrid MA; Tearle, Rick; Stubbs, Andrew; Harraway, James; van der Spek, Peter J; Venter, Deon J Journal: Pediatric and developmental pathology Issue: Volume 21:Number 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. Issue 3 (19th December 2013) Authors: Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M. Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional information. (2nd April 2015) Authors: Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M. Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Fetal Hydrops at 24 Weeks Gestation: A Genomic Analysis. (June 2017) Authors: Armes, Jane E; Squires, Lisa; Lourie, Rohan; Williams, Mark; Gallagher, Renee; Price, Gareth; Stubbs, Andrew; Swagemakers, Sigrid MA; van der Spek, Peter J; Harraway, James; Thomas, Joseph; Venter, Deon J Journal: Pediatric and developmental pathology Issue: Volume 20:Number 3(2017) Page Start: 245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KRAS mutation testing of metastatic colorectal cancer in Australia: Where are we at?. Issue 3 (9th May 2014) Authors: Scott, Rodney J.; Fox, Stephen B.; Desai, Jayesh; Grieu, Fabienne; Amanuel, Benhur; Garrett, Kerryn; Harraway, James; Cheetham, Glenice; Pattle, Neville; Haddad, Afaf; Byron, Keith; Rudzki, Barney; Waring, Paul; Iacopetta, Barry Journal: Asia-Pacific journal of clinical oncology Issue: Volume 10:Issue 3(2014:Sep.) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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. Issue 2 (11th November 2021) Authors: Vargas, Ana Cristina; Joy, Christopher; Cheah, Alison L; Jones, Martin; Bonar, Fiona; Brookwell, Ross; Garrone, Bernadette; Talbot, Joel; Harraway, James; Gill, Anthony J; Maclean, Fiona M Journal: Histopathology Issue: Volume 80:Issue 2(2022) Page Start: 369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances. Issue 4 (9th January 2021) Authors: Thomas, Joseph; Harraway, James; Kirchhoffer, David Journal: Medical journal of Australia Issue: Volume 214:Issue 4(2021) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances. Issue 8 (27th September 2021) Authors: Thomas, Joseph; Harraway, James; Kirchhoffer, David Journal: Medical journal of Australia Issue: Volume 215:Issue 8(2021) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗