1. Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. Issue 8 (3rd August 2019) Authors: Jayasinghe, Kushani; Stark, Zornitza; Patel, Chirag; Mallawaarachchi, Amali; McCarthy, Hugh; Faull, Randall; Chakera, Aron; Sundaram, Madhivanan; Jose, Matthew; Kerr, Peter; Wu, You; Wardrop, Louise; Goranitis, Ilias; Best, Stephanie; Martyn, Melissa; Quinlan, Catherine; Mallett, Andrew J Journal: BMJ open Issue: Volume 9:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. Issue 8 (5th August 2019) Authors: Jayasinghe, Kushani; Stark, Zornitza; Patel, Chirag; Mallawaarachchi, Amali; McCarthy, Hugh; Faull, Randall; Chakera, Aron; Sundaram, Madhivanan; Jose, Matthew; Kerr, Peter; Wu, You; Wardrop, Louise; Goranitis, Ilias; Best, Stephanie; Martyn, Melissa; Quinlan, Catherine; Mallett, Andrew J Journal: BMJ open Issue: Volume 9:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fatal cerebellar oedema in adult Leigh syndrome. Issue 4 (17th July 2020) Authors: Edwards, Leon S; Halmagyi, Gabor M; Mallawaarachchi, Amali; Thompson, Elizabeth O; Kiernan, Matthew C Journal: Practical neurology Issue: Volume 20:Issue 4(2020) Page Start: 336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Issue 3 (13th January 2018) Authors: Sandaradura, Sarah A.; Bournazos, Adam; Mallawaarachchi, Amali; Cummings, Beryl B.; Waddell, Leigh B.; Jones, Kristi J.; Troedson, Christopher; Sudarsanam, Annapurna; Nash, Benjamin M.; Peters, Gregory B.; Algar, Elizabeth M.; MacArthur, Daniel G.; North, Kathryn N.; Brammah, Susan; Charlton, Ama... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency. (8th January 2019) Authors: Morales-Briceño, Hugo; Chang, Florence C.F.; Wong, Chong; Mallawaarachchi, Amali; Wolfe, Nigel; Pellegrino da Silva, Renata; Hakonarson, Hakon; Sandaradura, Sarah Annabella; Guo, Yiran; Christodoulou, John; Lagopoulos, Jim; Grattan-Smith, Padraic; Fung, Victor S.C. Journal: Neurology Issue: Volume 92:Number 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Renal genetics in Australia: Kidney medicine in the genomic age. Issue 3 (18th October 2018) Authors: Jayasinghe, Kushani; Quinlan, Catherine; Stark, Zornitza; Patel, Chirag; Mallawaarachchi, Amali; Wardrop, Louise; Kerr, Peter G; Trnka, Peter; Mallett, Andrew J Journal: Nephrology Issue: Volume 24:Issue 3(2019) Page Start: 279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗