1. A familial 7q36.3 duplication associated with agenesis of the corpus callosum. (5th May 2015) Authors: Wong, Keith; Moldrich, Randal; Hunter, Matthew; Edwards, Matthew; Finlay, David; O'Donnell, Sheridan; MacDougall, Tom; Bain, Nicole; Kamien, Benjamin Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort. Issue 1 (14th September 2017) Authors: Downie, Lilian; Halliday, Jane L; Burt, Rachel A; Lunke, Sebastian; Lynch, Elly; Martyn, Melissa; Poulakis, Zeffie; Gaff, Clara; Sung, Valerie; Wake, Melissa; Hunter, Matthew; Saunders, Kerryn; Rose, Elizabeth; Rehm, Heidi L; Amor, David J Journal: BMJ paediatrics open Issue: Volume 1:Issue 1(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss. (16th September 2019) Authors: Sung, Valerie; Downie, Lilian; Paxton, Georgia A; Liddle, Karen; Birman, Catherine S; Chan, Wei Wei; Cottier, Carolyn; Harris, Alison; Hunter, Matthew; Peadon, Elizabeth; Peacock, Kenneth; Roddick, Laurence; Rose, Elizabeth; Saunders, Kerryn; Amor, David J Journal: Journal of paediatrics and child health Issue: Volume 55:Number 9(2019) Page Start: 1013 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. City Comedy, Public Style. (September 2016) Authors: Hunter, Matthew Journal: English literary renaissance Issue: Volume 46:Number 3(2016) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Issue 1 (December 2016) Authors: Eggers, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid; Tan, Tiong; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia; Heloury, Yves; Zacharin, Margaret; Ber... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome. Issue 4 (21st February 2019) Authors: Griffiths, Sara; Loveday, Chey; Zachariou, Anna; Behan, Lucy‐Ann; Chandler, Kate; Cole, Trevor; D'Arrigo, Stefano; Dieckmann, Andrea; Foster, Alison; Gibney, James; Hunter, Matthew; Milani, Donatella; Pantaleoni, Chiara; Roche, Edna; Sherlock, Mark; Springer, Amanda; White, Susan M.; Tatton‐Brown... Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 588 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. Issue 2 (23rd January 2017) Authors: Ibrahim, Masitah; Hunter, Matthew; Gugasyan, Lucy; Chan, Yuen; Malhotra, Atul; Sehgal, Arvind; Tan, Kenneth Journal: Clinical case reports Issue: Volume 5:Issue 2(2017) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Management of the Traumatic Airway Obstructed by Foreign Body. (July 2020) Authors: Hollon, McKenzie M.; Hunter, Matthew; Johnson, Richard Journal: Anesthesiology Issue: Volume 133:Number 1(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Maternal attitudes to newborn screening for fragile X syndrome1. Issue 2 (9th January 2013) Authors: Christie, Louise; Wotton, Tiffany; Bennetts, Bruce; Wiley, Veronica; Wilcken, Bridget; Rogers, Carolyn; Boyle, Jackie; Turner, Catherine; Hansen, Jessica; Hunter, Matthew; Goel, Himanshu; Field, Michael Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Meeting the challenges of implementing rapid genomic testing in acute pediatric care. (December 2018) Authors: Stark, Zornitza; Lunke, Sebastian; Brett, Gemma; Tan, Natalie; Stapleton, Rachel; Kumble, Smitha; Yeung, Alison; Phelan, Dean; Chong, Belinda; Fanjul-Fernandez, Miriam; Marum, Justine; Hunter, Matthew; Jarmolowicz, Anna; Prawer, Yael; Riseley, Jessica; Regan, Matthew; Elliott, Justine; Martyn, Me... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗