1. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018) Authors: Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins,... Journal: Genetics in medicine Issue: Volume 20:Number 9(2018) Page Start: 1061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders. Issue 6 (18th April 2020) Authors: Gregersen, Pernille A.; McKay, Victoria; Walsh, Maie; Brown, Erica; McGillivray, George; Savarirayan, Ravi Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 6(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Australian guidelines for the management of children with achondroplasia. (11th January 2023) Authors: Tofts, Louise J; Armstrong, Jennifer A; Broley, Stephanie; Carroll, Theresa; Ireland, Penelope J; Koo, Minna; Langdon, Katherine; McGregor, Lesley; McKenzie, Fiona; Mehta, Divyesh; Savarirayan, Ravi; Tate, Tracy; Wesley, Alison; Zankl, Andreas; Jenner, Maree; Eyles, Marta; Pacey, Verity Journal: Journal of paediatrics and child health Issue: Volume 59:Number 2(2023) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Best practices in peri‐operative management of patients with skeletal dysplasias. Issue 10 (1st August 2017) Authors: White, Klane K.; Bompadre, Viviana; Goldberg, Michael J.; Bober, Michael B.; Cho, Tae‐Joon; Hoover‐Fong, Julie E.; Irving, Melita; Mackenzie, William G.; Kamps, Shawn E.; Raggio, Cathleen; Redding, Gregory J.; Spencer, Samantha S.; Savarirayan, Ravi; Theroux, Mary C. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2584 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Issue 1 (23rd September 2015) Authors: White, Klane K.; Bompadre, Viviana; Goldberg, Michael J.; Bober, Michael B.; Campbell, Jeffrey W.; Cho, Tae‐Joon; Hoover‐Fong, Julie; Mackenzie, William; Parnell, Shawn E.; Raggio, Cathleen; Rapoport, David M.; Spencer, Samantha A.; Savarirayan, Ravi Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Issue 1 (21st November 2013) Authors: Burgess, Trent; Brown, Natasha J.; Stark, Zornitza; Bruno, Damien L.; Oertel, Ralph; Chong, Belinda; Calabro, Vanessa; Kornberg, Andrew; Sanderson, Christine; Kelly, Julian; Howell, Katherine B.; Savarirayan, Ravi; Hinds, Rupert; Greenway, Anthea; Slater, Howard R.; White, Susan M. Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Issue 1 (22nd April 2019) Authors: Fredwall, Svein O.; Maanum, Grethe; Johansen, Heidi; Snekkevik, Hildegun; Savarirayan, Ravi; Lidal, Ingeborg B. Journal: Clinical genetics Issue: Volume 97:Issue 1(2020) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017) Authors: Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch... Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit. (12th February 2019) Authors: Tan, Natalie B; Tan, Tiong Yang; Martyn, Melissa M; Savarirayan, Ravi; Amor, David J; Moody, Amanda; White, Susan M; Stark, Zornitza Journal: Journal of paediatrics and child health Issue: Volume 55:Number 11(2019) Page Start: 1309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?. Issue 3 (11th January 2016) Authors: Mordaunt, Dylan A.; Savarirayan, Ravi Journal: Human mutation Issue: Volume 37:Issue 3(2016) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗