11. Paediatric genomic testing: Navigating genomic reports for the general paediatrician. (23rd August 2021) Authors: Shah, Margit; Selvanathan, Arthavan; Baynam, Gareth; Berman, Yemima; Boughtwood, Tiffany; Freckmann, Mary‐Louise; Parasivam, Gayathri; White, Susan M; Grainger, Natalie; Kirk, Edwin P; Ma, Alan SL; Sachdev, Rani Journal: Journal of paediatrics and child health Issue: Volume 58:Number 1(2022) Page Start: 8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. 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) ↗
13. Phenotypic insights into ADCY5‐associated disease. Issue 7 (8th April 2016) Authors: Chang, Florence C.F.; Westenberger, Ana; Dale, Russell C.; Smith, Martin; Pall, Hardev S.; Perez‐Dueñas, Belen; Grattan‐Smith, Padraic; Ouvrier, Robert A.; Mahant, Neil; Hanna, Bernadette C.; Hunter, Matthew; Lawson, John A.; Max, Christoph; Sachdev, Rani; Meyer, Esther; Crimmins, Dennis; Pryor, ... Journal: Movement disorders Issue: Volume 31:Issue 7(2016) Page Start: 1033 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy. (March 2022) Authors: Nevin, Suzanne M.; Wakefield, Claire E.; Le Marne, Fleur; Beavis, Erin; Macintosh, Rebecca; Sachdev, Rani; Bye, Ann; Palmer, Elizabeth E.; Nunn, Kenneth Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme. (20th December 2022) Authors: Le Marne, Fleur A; Briggs, Nancy; Frith, Katie; Kariyawasam, Didu; McCarthy, Hugh J; Nunn, Kenneth; Rao, Arjun; Sachdev, Rani; Sarkozy, Vanessa; Teng, Arthur; Trethewie, Susan; Williams, Gary D; Bye, Ann ME Journal: Journal of paediatrics and child health Issue: Volume 59:Number 2(2023) Page Start: 307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Issue 3 (25th February 2015) Authors: Marques, Isabel; Sá, Maria João; Soares, Gabriela; Mota, Maria do Céu; Pinheiro, Carla; Aguiar, Lisa; Amado, Marta; Soares, Christina; Calado, Angelina; Dias, Patrícia; Sousa, Ana Berta; Fortuna, Ana Maria; Santos, Rosário; Howell, Katherine B.; Ryan, Monique M.; Leventer, Richard J; Sachdev, Ran... Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 3(2015:May) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. (December 2018) Authors: Ewans, Lisa; Schofield, Deborah; Shrestha, Rupendra; Zhu, Ying; Gayevskiy, Velimir; Ying, Kevin; Walsh, Corrina; Lee, Eric; Kirk, Edwin; Colley, Alison; Ellaway, Carolyn; Turner, Anne; Mowat, David; Worgan, Lisa; Freckmann, Mary-Louise; Lipke, Michelle; Sachdev, Rani; Miller, David; Field, Michae... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗