1. A deep intronic SMARCB1 variant associated with schwannomatosis. Issue 2 (9th September 2019) Authors: Smith, Miriam J.; Bowers, Naomi L.; Banks, Catherine; Coates‐Brown, Rosanna; Morris, Katrina A.; Ewans, Lisa; Wilson, Meredith; Pinner, Jason; Bhaskar, Sanjeev S.; Cammarata‐Scalisi, Francisco; Wallace, Andrew J.; Evans, Daffyd Gareth R. Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020) Authors: Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CHARGE syndrome: A review. (19th February 2014) Authors: Hsu, Peter; Ma, Alan; Wilson, Meredith; Williams, George; Curotta, John; Munns, Craig F; Mehr, Sam Journal: Journal of paediatrics and child health Issue: Volume 50:Number 7(2014:Jul.) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. (8th January 2015) Authors: Jedraszak, Guillaume; Demeer, Bénédicte; Mathieu‐Dramard, Michèle; Andrieux, Joris; Receveur, Aline; Weber, Astrid; Maye, Una; Foulds, Nicola; Temple, IK; Crolla, John; Alex‐Cordier, Marie‐Pierre; Sanlaville, Damien; Ewans, Lisa; Wilson, Meredith; Armstrong, Ruth; Clarkson, Amanda; Copin, Henri; ... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder. Issue 12 (10th August 2022) Authors: Janssen, Beau D. E.; van den Boogaard, Marie‐Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury‐Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V.; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, R... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Disaster as Opportunity? Cyclone Pam and the Transmission of Cultural Heritage. Issue 1 (2nd April 2020) Authors: Ballard, Chris; Wilson, Meredith; Nojima, Yoko; Matanik, Richard; Shing, Richard Journal: Anthropological forum Issue: Volume 30:Issue 1/2(2020) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Disaster as Opportunity? Cyclone Pam and the Transmission of Cultural Heritage. Issue 1 (2nd April 2020) Authors: Ballard, Chris; Wilson, Meredith; Nojima, Yoko; Matanik, Richard; Shing, Richard Journal: Anthropological forum Issue: Volume 30:Issue 1/2(2020) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Impact of acculturation on depression, perceived stress and self-esteem in young Middle Eastern American adults. (19th May 2018) Authors: Wilson, Meredith; Thayer, Zaneta Journal: Annals of human biology Issue: Volume 45:Number 4(2018) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. KBG syndrome: An Australian experience. Issue 7 (27th April 2017) Authors: Murray, Natalia; Burgess, Bronwyn; Hay, Robin; Colley, Alison; Rajagopalan, Sulekha; McGaughran, Julie; Patel, Chirag; Enriquez, Annabelle; Goodwin, Linda; Stark, Zornitza; Tan, Tiong; Wilson, Meredith; Roscioli, Tony; Tekin, Mustafa; Goel, Himanshu Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗