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 novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system. Issue 2 (18th February 2019) Authors: Martyn, Melissa; Kanga‐Parabia, Anaita; Lynch, Elly; James, Paul A.; Macciocca, Ivan; Trainer, Alison H.; Halliday, Jane; Keogh, Louise; Wale, Janney; Winship, Ingrid; Bogwitz, Michael; Valente, Giulia; Walsh, Maie; Downie, Lilian; Amor, David; Wallis, Mathew; Cunningham, Fiona; Burgess, Matthew;... Journal: Journal of genetic counseling Issue: Volume 28:Issue 2(2019) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease. Issue 7 (6th February 2022) Authors: Ratnayake, Chathri; Rius, Rocio; Wallis, Mathew; Raj, Rajesh; Christodoulou, John Journal: Nephrology Issue: Volume 27:Issue 7(2022) Page Start: 640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition. Issue 5 (10th June 2021) Authors: Christensen, Maja; Wallis, Mathew; Jessup, Peter; Lemelle, Irène; Jones, Dean L Journal: Practical neurology Issue: Volume 21:Issue 5(2021) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dual genetic diagnoses: Atypical hand‐foot‐genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. Issue 3 (21st November 2015) Authors: Wallis, Mathew; Tsurusaki, Yoshinori; Burgess, Trent; Borzi, Peter; Matsumoto, Naomichi; Miyake, Noriko; True, Deanna; Patel, Chirag Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fanconi anemia in 55‐year‐old identical twins first presenting as fatal post‐chemotherapy pancytopenia. Issue 12 (8th August 2016) Authors: Stevens, Hannah; Chyn Chua, Chong; Wallis, Mathew; Hew, Simon; Grigg, Andrew Journal: American journal of hematology Issue: Volume 91:Issue 12(2016:Dec.) Page Start: 1273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Loss of TOP3B leads to increased R-loop formation and genome instability. Issue 12 (4th December 2019) Authors: Zhang, Tao; Wallis, Mathew; Petrovic, Vida; Challis, Jackie; Kalitsis, Paul; Hudson, Damien F. Journal: Open biology Issue: Volume 9:Issue 12(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain. Issue 1 (27th October 2020) Authors: Wallis, Mathew; Pope‐Couston, Rachel; Mansour, Julia; Amor, David J.; Tang, Paisu; Stock‐Myer, Sharyn Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. Issue 12 (6th September 2022) Authors: Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F.; Brown, Natasha J.; Wallis, Mathew; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom; Gardiner, Fiona; Stutterd, Chloe; Duan, Jing; Mullen, Saul A.; McGillivray, George; Bodek, Simon; Valente, Giulia; Reagan, Matthew; Yao, Yi Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1956 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Paediatric genomic testing: Navigating medicare rebatable genomic testing. (10th February 2021) Authors: Sachdev, Rani; Field, Mike; Baynam, Gareth S; Beilby, John; Berarducci, Maria; Berman, Yemima; Boughtwood, Tiffany; Cusack, Marie B; Fitzgerald, Vanessa; Fletcher, Jeffery; Freckmann, Mary‐Louise; Grainger, Natalie; Kirk, Edwin; Lundie, Ben; Lunke, Sebastian; McGregor, Lesley; Mowat, David; Paras... Journal: Journal of paediatrics and child health Issue: Volume 57:Number 4(2021) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗