Mandarakas MR; Menezes MP; Rose KJ; Shy R; Eichinger K; Foscan M; Estilow T; Kennedy R; Herbert K; Bray P; Refshauge K; Ryan MM; Yiu EM; Farrar M; Sampaio H; Moroni I; Pagliano E; Pareyson D; Yum SW; Herrmann DN; Acsadi G; Shy ME; Burns J; Sanmaneechai O, 2018, 'Development and validation of the Charcot-Marie-Tooth disease infant scale', Brain, vol. 141, pp. 3319 - 3330, http://dx.doi.org/10.1093/brain/awy280

Maksemous N; Smith RA; Sutherland HG; Sampaio H; Griffiths LR, 2018, 'Whole-exome sequencing implicates SCN2A in episodic ataxia, but multiple ion channel variants may contribute to phenotypic complexity', International Journal of Molecular Sciences, vol. 19, http://dx.doi.org/10.3390/ijms19103113

Sampaio H; Wilcken B; Farrar M, 2018, 'Screening for spinal muscular atrophy', The Medical journal of Australia, vol. 209, pp. 147 - 148, http://dx.doi.org/10.5694/mja17.00772

Oates E; Jones K; Donkervoort S; Charlton A; Brammah S; Smith J; Ware J; Yau K; Swanson L; Whiffin N; Peduto A; Bournazos A; Waddell L; Farrar M; Sampaio H; Teoh H; Lamont P; Mowat D; Fitzsimmons R; Corbett A; Ryan M; O'Grady G; Sandaradura S; Ghaoui R; Joshi H; Marshall J; Nolan M; Kaur S; Punetha J; Topf A; Harris E; Bakshi M; Genetti C; Marttila M; Werkauff U; Streichenberger N; Pestronk A; Mazanti I; Pinner J; Vuillerot C; Grosmann C; Camacho A; Mohassel P; Leach M; Foley A; Bharucha-Goeber D; Collins J; Connolly A; Gilbreath H; Iannaccone S; Castro D; Cummings B; Webster R; Lazaro L; Vissing J; Coppens S; Deconinck N; Luk H; Thomas N; Foulds N; Illingworth M; Ellard S; McLean C; Phadke R; Ravenscroft G; Witting N; Hackman P; Clarke N; Lek M; Beggs A; Bonnemann C; MacArthur D; Granzier H; Davis M; Laing N, 2018, 'Congenital titinopathy: comprehensive characterisation & pathogenic insights', Annals or Neurology, vol. 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241

Farrar MA; Teoh HL; Carey KA; Cairns A; Forbes R; Herbert K; Holland S; Jones KJ; Menezes MP; Morrison M; Munro K; Villano D; Webster R; Woodcock IR; Yiu EM; Sampaio H; Ryan MM, 2018, 'Nusinersen for SMA: expanded access programme', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, pp. 937 - 942, http://dx.doi.org/10.1136/jnnp-2017-317412

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Burns J; Sman AD; Cornett KMD; Wojciechowski E; Walker T; Menezes MP; Mandarakas MR; Rose KJ; Bray P; Sampaio H; Farrar M; Refshauge KM; Raymond J; Baldwin J; McKay MJ; Mudge A; Purcell L; Miller C; Gray K; Harman M; Gabrael N; Ouvrier RA, 2017, 'Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial', The Lancet Child and Adolescent Health, vol. 1, pp. 106 - 113, http://dx.doi.org/10.1016/S2352-4642(17)30013-5

Trahair T; Sorrentino S; Russell SJ; Sampaio H; Selek L; Plantaz D; Freycon C; Simon T; Kraal K; Beck-Popovic M; Haupt R; Ash S; De Bernardi B, 2017, 'Spinal Canal Involvement in Neuroblastoma', Journal of Pediatrics, vol. 188, pp. 294 - 298, http://dx.doi.org/10.1016/j.jpeds.2017.05.051

Teoh HL; Carey K; Sampaio H; Mowat D; Roscioli T; Farrar M, 2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, vol. 2017, http://dx.doi.org/10.1155/2017/6509493

Teoh HL; Sampaio H; Roscioli T; Farrar M, 2016, 'Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing', Journal of Neurology, Neurosurgery and Psychiatry, vol. 87, pp. 1384 - 1385, http://dx.doi.org/10.1136/jnnp-2016-313812

Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H, 2016, 'Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency', Pediatrics, vol. 138, http://dx.doi.org/10.1542/peds.2016-1068

Menezes MP; Rahman S; Bhattacharya K; Clark D; Christodoulou J; Ellaway C; Farrar M; Pitt M; Sampaio H; Ware TL; Wedatilake Y; Thorburn DR; Ryan MM; Ouvrier R, 2016, 'Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease', Mitochondrion, vol. 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014

Myers CT; McMahon JM; Schneider AL; Petrovski S; Allen AS; Carvill GL; Zemel M; Saykally JE; LaCroix AJ; Heinzen EL; Hollingsworth G; Nikanorova M; Corbett M; Gecz J; Coman D; Freeman J; Calvert S; Gill D; Carney P; Lerman-Sagie T; Sampaio H; Cossette P; Delanty N; Dlugos D; Eichler EE; Epstein MP; Glauser T; Johnson MR; Kuzniecky R; Marson AG; O'Brien TJ; Ottman R; Petrou S; Poduri A; Pickrell WO; Chung SK; Rees MI; Sherr E; Sadleir LG; Goldstein DB; Lowenstein DH; Møller RS; Berkovic SF; Scheffer IE; Mefford HC, 2016, 'De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies', American Journal of Human Genetics, vol. 99, pp. 287 - 298, http://dx.doi.org/10.1016/j.ajhg.2016.06.003

Perera N; Sampaio H; Woodhead H; Farrar M, 2016, 'Fracture in Duchenne Muscular Dystrophy: Natural History and Vitamin D Deficiency', Journal of Child Neurology, vol. 31, pp. 1181 - 1187, http://dx.doi.org/10.1177/0883073816650034

Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G, 2016, 'Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia', Neurology, vol. 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813

Teoh HL; Mohammad SS; Britton PN; Kandula T; Lorentzos MS; Booy R; Jones CA; Rawlinson W; Ramachandran V; Rodriguez ML; Ian Andrews P; Dale RC; Farrar MA; Sampaio H, 2016, 'Clinical characteristics and functional motor outcomes of enterovirus 71 neurological disease in children', JAMA Neurology, vol. 73, pp. 300 - 307, http://dx.doi.org/10.1001/jamaneurol.2015.4388

Palmer EE; Jarrett KE; Sachdev RK; Zahrani FA; Hashem MO; Ibrahim N; Sampaio H; Kandula T; Macintosh R; Gupta R; Conlon DM; Billheimer JT; Rader DJ; Funato K; Walkey CJ; Lee CS; Loo C; Brammah S; Elakis G; Zhu Y; Buckley M; Kirk EP; Bye A; Alkuraya FS; Roscioli T; Lagor WR, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, vol. 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157

Teoh HL; Sampaio H; Farrar M, 2015, 'Enterovirus 71 Neuroimaging: “The New Polio of the 21st Century”', Pediatrics & Therapeutics, vol. 05, http://dx.doi.org/10.4172/2161-0665.1000i111