| The genetic landscape of the epileptic encephalopathies of infancy and childhood A McTague, KB Howell, JH Cross, MA Kurian, IE Scheffer The Lancet Neurology 15 (3), 304-316, 2016 | 672 | 2016 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 465 | 2017 |
| The monoamine neurotransmitter disorders: an expanding range of neurological syndromes MA Kurian, P Gissen, M Smith, SJR Heales, PT Clayton The Lancet Neurology 10 (8), 721-733, 2011 | 394 | 2011 |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ... The American journal of human genetics 91 (6), 1144-1149, 2012 | 378 | 2012 |
| Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ... Nature communications 7 (1), 11601, 2016 | 305 | 2016 |
| Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ... Human molecular genetics 23 (12), 3200-3211, 2014 | 287 | 2014 |
| Monoamine neurotransmitter disorders—clinical advances and future perspectives J Ng, A Papandreou, SJ Heales, MA Kurian Nature Reviews Neurology 11 (10), 567-584, 2015 | 281 | 2015 |
| Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia MA Kurian, J Zhen, SY Cheng, Y Li, SR Mordekar, P Jardine, NV Morgan, ... The Journal of clinical investigation 119 (6), 1595-1603, 2009 | 260 | 2009 |
| Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation SJ Hayflick, MC Kruer, A Gregory, TB Haack, MA Kurian, HH Houlden, ... Brain 136 (6), 1708-1717, 2013 | 255 | 2013 |
| Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis N Trump, A McTague, H Brittain, A Papandreou, E Meyer, A Ngoh, ... Journal of medical genetics 53 (5), 310-317, 2016 | 248 | 2016 |
| Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) MA Kurian, NV Morgan, L MacPherson, K Foster, D Peake, R Gupta, ... Neurology 70 (18), 1623-1629, 2008 | 248 | 2008 |
| Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ... Orphanet journal of rare diseases 12, 1-21, 2017 | 241 | 2017 |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017 | 229 | 2017 |
| Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation S Dusi, L Valletta, TB Haack, Y Tsuchiya, P Venco, S Pasqualato, ... The American Journal of Human Genetics 94 (1), 11-22, 2014 | 220 | 2014 |
| Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study MA Kurian, Y Li, J Zhen, E Meyer, N Hai, HJ Christen, GF Hoffmann, ... The Lancet Neurology 10 (1), 54-62, 2011 | 220 | 2011 |
| Neurodegeneration with brain iron accumulation SJ Hayflick, MA Kurian, P Hogarth Handbook of clinical neurology 147, 293-305, 2018 | 209 | 2018 |
| PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine AR Gardiner, KP Bhatia, M Stamelou, RC Dale, MA Kurian, SA Schneider, ... Neurology 79 (21), 2115-2121, 2012 | 200 | 2012 |
| Loss-of-function mutations in RAB18 cause Warburg micro syndrome D Bem, SI Yoshimura, R Nunes-Bastos, FF Bond, MA Kurian, F Rahman, ... The American Journal of Human Genetics 88 (4), 499-507, 2011 | 186 | 2011 |
| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood J Ng, J Zhen, E Meyer, K Erreger, Y Li, N Kakar, J Ahmad, H Thiele, ... Brain 137 (4), 1107-1119, 2014 | 173 | 2014 |
| Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures T Stödberg, A McTague, AJ Ruiz, H Hirata, J Zhen, P Long, I Farabella, ... Nature communications 6 (1), 8038, 2015 | 170 | 2015 |