By Dr Didu Sanduni Thamarasa Kariyawasam

Journal articles

Balaji L; Forbes R; Cairns A; Sampaio H; Kornberg AJ; Sanders L; Lamont P; Liang C; Jones KJ; Nowak K; O'Gorman C; Woodcock I; Briggs N; Yiu EM; Farrar MA; Kariyawasam D, 2024, 'A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study', The Lancet Regional Health - Western Pacific, 53, http://dx.doi.org/10.1016/j.lanwpc.2024.101237

Nguyen CQ; Kariyawasam DST; Ngai TSJ; Nguyen J; Alba-Concepcion K; Grattan SE; Palmer EE; Hetherington K; Wakefield CE; Dale RC; Woolfenden S; Mohammad S; Farrar MA, 2024, '‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases', Health Expectations, 27, http://dx.doi.org/10.1111/hex.14063

Ji C; Kariyawasam DS; Sampaio H; Lorentzos M; Jones KJ; Farrar MA, 2024, 'Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders', The Lancet Regional Health - Western Pacific, 45, http://dx.doi.org/10.1016/j.lanwpc.2024.101049

Kariyawasam DS; Scarfe J; Meagher C; Farrar MA; Bhattacharya K; Carter SM; Newson AJ; Otlowski M; Watson J; Millis N; Norris S, 2024, '‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives', PLoS ONE, 19, pp. 1 - 13, http://dx.doi.org/10.1371/journal.pone.0299336

Farrar MA; Kariyawasam DS, 2024, 'Deciphering spinal muscular atrophy: the need for more research', The Lancet Neurology, 23, pp. 134 - 136, http://dx.doi.org/10.1016/S1474-4422(23)00502-1

Djafar JV; Smith NJ; Johnson AM; Bhattacharya K; Ardern-Holmes SL; Ellaway C; Dale RC; D'Silva AM; Kariyawasam DS; Grattan S; Kandula T; Lewis K; Mohammed SS; Farrar MA, 2023, 'Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers', Pediatric Neurology, 149, pp. 75 - 83, http://dx.doi.org/10.1016/j.pediatrneurol.2023.09.006

Farrar MA; Calotes-Castillo L; De Silva R; Barclay P; Attwood L; Cini J; Ferrie M; Kariyawasam DS, 2023, 'Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective', Molecular and Cellular Pediatrics, 10, http://dx.doi.org/10.1186/s40348-023-00171-5

Ji C; Farrar MA; Norris S; Bhattacharya K; Bennetts B; Newson AJ; Healy L; Millis N; Kariyawasam DS, 2023, 'The Australian landscape of newborn screening in the genomics era', Rare Disease and Orphan Drugs Journal, 2, http://dx.doi.org/10.20517/rdodj.2023.30

Farrar MA; Kiernan MC; Kariyawasam DS, 2023, 'Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology', Brain, 146, pp. E65 - E66, http://dx.doi.org/10.1093/brain/awad061

Davidson JE; Russell JS; Martinez NN; Mowat DR; Jones KJ; Kirk EP; Kariyawasam D; Farrar M; D’Silva A, 2023, 'The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers', Genes, 14, http://dx.doi.org/10.3390/genes14071403

Kariyawasam DS; D'Silva AM; Sampaio H; Briggs N; Herbert K; Wiley V; Farrar MA, 2023, 'Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study', The Lancet Child and Adolescent Health, 7, pp. 159 - 170, http://dx.doi.org/10.1016/S2352-4642(22)00342-X

Le Marne FA; Briggs N; Frith K; Kariyawasam D; McCarthy HJ; Nunn K; Rao A; Sachdev R; Sarkozy V; Teng A; Trethewie S; Williams GD; Bye AME, 2023, 'Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme', Journal of Paediatrics and Child Health, 59, pp. 307 - 318, http://dx.doi.org/10.1111/jpc.16291

Balaji L; Farrar MA; D’Silva AM; Kariyawasam DS, 2023, 'Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective', Expert Review of Neurotherapeutics, 23, pp. 571 - 586, http://dx.doi.org/10.1080/14737175.2023.2218549

D’Silva AM; Kariyawasam D; Venkat P; Mayoh C; Farrar MA, 2023, 'Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study', Pharmaceutics, 15, http://dx.doi.org/10.3390/pharmaceutics15010170

Farrar MA; Kariyawasam D; Grattan S; Bayley K; Davis M; Holland S; Waddel LB; Jones K; Lorentzos M; Ravine A; Wotton T; Wiley V, 2023, 'Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy', Journal of Neuromuscular Diseases, 10, pp. 15 - 28, http://dx.doi.org/10.3233/JND-221535

Nguyen CQ; Kariyawasam D; Alba-Concepcion K; Grattan S; Hetherington K; Wakefield CE; Woolfenden S; Dale RC; Palmer EE; Farrar MA; Concepcion K, 2022, '‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics', Health Expectations, 25, pp. 3175 - 3191, http://dx.doi.org/10.1111/hex.13625

Kariyawasam D; D’Silva A; Mowat D; Russell J; Sampaio H; Jones K; Taylor P; Farrar M, 2022, 'Incidence of Duchenne muscular dystrophy in the modern era; an Australian study', European Journal of Human Genetics, 30, pp. 1398 - 1404, http://dx.doi.org/10.1038/s41431-022-01138-2

D'Silva AM; Kariyawasam DST; Best S; Wiley V; Farrar MA; Ravine A; Mowat D; Sampaio H; Alexander IE; Russell J; Jones K; Junek Z, 2022, 'Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme', Developmental Medicine and Child Neurology, 64, pp. 625 - 632, http://dx.doi.org/10.1111/dmcn.15117

D'Silva AM; Holland S; Kariyawasam D; Herbert K; Barclay P; Cairns A; MacLennan SC; Ryan MM; Sampaio H; Smith N; Woodcock IR; Yiu EM; Alexander IE; Farrar MA, 2022, 'Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy', Annals of Clinical and Translational Neurology, 9, pp. 339 - 350, http://dx.doi.org/10.1002/acn3.51519

Kariyawasam DST; D'Silva AM; Herbert K; Howells J; Carey K; Kandula T; Farrar MA; Lin C, 2022, 'Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen', Journal of Physiology, 600, pp. 95 - 109, http://dx.doi.org/10.1113/JP282249

Kariyawasam D; D'Silva A; Farrar M; Shin-Yi Lin C, 2022, 'WE-149. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, 141, pp. S73 - S74, http://dx.doi.org/10.1016/j.clinph.2022.07.193

Kariyawasam DST; Farrar MA, 2021, 'Spinal muscular atrophy: A new treatment paradigm of proactive care', Medicine Today, 22, pp. 55 - 60

Kariyawasam DST; D'Silva AM; Vetsch J; Wakefield CE; Wiley V; Farrar MA, 2021, '“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy', EClinicalMedicine, 33, pp. 100742, http://dx.doi.org/10.1016/j.eclinm.2021.100742

Kariyawasam D; D'silva A; Howells J; Herbert K; Geelan-Small P; Lin CSY; Farrar MA, 2021, 'Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen', Journal of Neurology, Neurosurgery and Psychiatry, 92, pp. 78 - 85, http://dx.doi.org/10.1136/jnnp-2020-324254

Kariyawasam D; Alexander IE; Kurian M; Farrar MA, 2020, 'Great expectations: Virus-mediated gene therapy in neurological disorders', Journal of Neurology, Neurosurgery and Psychiatry, 91, pp. 849 - 860, http://dx.doi.org/10.1136/jnnp-2019-322327

Kariyawasam DST; Russell JS; Wiley V; Alexander IE; Farrar MA, 2020, 'The implementation of newborn screening for spinal muscular atrophy: the Australian experience', Genetics in Medicine, 22, pp. 557 - 565, http://dx.doi.org/10.1038/s41436-019-0673-0

Kariyawasam DST; D’Silva A; Herbert K; Lin CSY; Geelan-Small P; Farrar MA, 2020, '7. Motor unit changes in children with spinal muscular atrophy treated with nusinersen', Clinical Neurophysiology, 131, pp. e3 - e4, http://dx.doi.org/10.1016/j.clinph.2019.11.040

Kariyawasam DST; D’silva A; Lin C; Ryan MM; Farrar MA; D'Silva A, 2019, 'Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy', Frontiers in Neurology, 10, pp. 898, http://dx.doi.org/10.3389/fneur.2019.00898

Anand G; Vasallo G; Spanou M; Thomas S; Pike M; Kariyawasam DS; Mehta S; Parry A; Durie-Gair J; Nicholson J; Lascelles K; Everett V; Gibbon FM; Jarvis N; Elston J; Evans DG; Halliday D, 2018, 'Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population', Archives of Disease in Childhood, 103, pp. 463 - 469, http://dx.doi.org/10.1136/archdischild-2017-313154

Kariyawasam D; Carey K; Jones K; Farrar MA, 2018, 'New and developing therapies in spinal muscular atrophy', Paediatric Respiratory Reviews, 28, pp. 3 - 10, http://dx.doi.org/10.1016/j.prrv.2018.03.003

Sampaio H; Kariyawasam D; Buckley M; Mowat D; Robinson J; Taylor P; Jones K; Farrar M, 2018, 'DUCHENNE MUSCULAR DYSTROPHY - GENETICS', Neuromuscular Disorders, 28, pp. S97 - S98, http://dx.doi.org/10.1016/j.nmd.2018.06.264

Kariyawasam DS; McShane T, 2015, 'Brain tumours in paediatrics: When should they be suspected?', Archives of Disease in Childhood, 100, pp. 1102 - 1103, http://dx.doi.org/10.1136/archdischild-2015-308729

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