1. Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders. (December 2022) Authors: Arpone, Marta; Bretherton, Lesley; Amor, David J.; Hearps, Stephen J.C.; Rogers, Carolyn; Field, Michael J.; Hunter, Matthew F.; Santa Maria, Lorena; Alliende, Angelica M.; Slee, Jennie; Godler, David E.; Baker, Emma K. Journal: Research in developmental disabilities Issue: Volume 131(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020) Authors: Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020) Authors: Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Issue 11 (November 2020) Authors: Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher P.; Pinner, Jason; Sandaradura, Sarah A.; Buckley, Michael F.; Krzesinski, Emma I.; de Silva, Michelle G.; Brett, Gemma R.; Boggs, Kirsten; Mowat, David; Kirk, Edwin P.; Adès, Lesley C.; Akesson, Lauren S.; ... Journal: Obstetrical & gynecological survey Issue: Volume 75:Issue 11(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FOXP1 mutations cause intellectual disability and a recognizable phenotype2. Issue 12 (24th September 2013) Authors: Le Fevre, Anna K.; Taylor, Sharelle; Malek, Neva H.; Horn, Denise; Carr, Christopher W.; Abdul‐Rahman, Omar A.; O'Donnell, Sherindan; Burgess, Trent; Shaw, Marie; Gecz, Jozef; Bain, Nicole; Fagan, Kerry; Hunter, Matthew F. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. FOXP1 mutations cause intellectual disability and a recognizable phenotype2. Issue 12 (24th September 2013) Authors: Le Fevre, Anna K.; Taylor, Sharelle; Malek, Neva H.; Horn, Denise; Carr, Christopher W.; Abdul‐Rahman, Omar A.; O'Donnell, Sherindan; Burgess, Trent; Shaw, Marie; Gecz, Jozef; Bain, Nicole; Fagan, Kerry; Hunter, Matthew F. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Issue 11 (9th September 2020) Authors: Akesson, Lauren S.; Bournazos, Adam; Fennell, Andrew; Krzesinski, Emma I.; Tan, Kenneth; Springer, Amanda; Rose, Katherine; Goranitis, Ilias; Francis, David; Lee, Crystle; Faiz, Fathimath; Davis, Mark R.; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Hunter, Matthew F.; Cooper, Sandra T. Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1884 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Severe connective tissue laxity including aortic dilatation in Sotos syndrome. Issue 2 (27th November 2015) Authors: Hood, Rebecca L.; McGillivray, George; Hunter, Matthew F.; Roberston, Stephen P.; Bulman, Dennis E.; Boycott, Kym M.; Stark, Zornitza Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 531 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗