| Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies S Masnada, UBS Hedrich, E Gardella, J Schubert, C Kaiwar, EW Klee, ... Brain 140 (9), 2337-2354, 2017 | 137 | 2017 |
| Disappearing act: COVID-19 and paediatric emergency department attendances L Dann, J Fitzsimons, KM Gorman, J Hourihane, I Okafor Archives of disease in childhood 105 (8), 810-811, 2020 | 114 | 2020 |
| The phenotypic spectrum of SCN2A-related epilepsy C Reynolds, MD King, KM Gorman European Journal of Paediatric Neurology 24, 117-122, 2020 | 86 | 2020 |
| Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 80 | 2020 |
| Genetic potassium channel-associated epilepsies: Clinical review of the Kv family NM Allen, S Weckhuysen, K Gorman, MD King, H Lerche European Journal of Paediatric Neurology 24, 105-116, 2020 | 72 | 2020 |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 68 | 2020 |
| NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families M Al Shehhi, EB Forman, JE Fitzgerald, V McInerney, J Krawczyk, S Shen, ... European journal of medical genetics 62 (3), 204-209, 2019 | 60 | 2019 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 58 | 2019 |
| 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy UBS Hedrich, S Lauxmann, M Wolff, M Synofzik, T Bast, A Binelli, ... Science translational medicine 13 (609), eaaz4957, 2021 | 51 | 2021 |
| Clinical and genetic spectrum of SCN2A-associated episodic ataxia N Schwarz, T Bast, E Gaily, G Golla, KM Gorman, LR Griffiths, A Hahn, ... european journal of paediatric neurology 23 (3), 438-447, 2019 | 48 | 2019 |
| Case report: benefits and challenges of long-term eculizumab in atypical hemolytic uremic syndrome N Cullinan, KM Gorman, M Riordan, M Waldron, THJ Goodship, A Awan Pediatrics 135 (6), e1506-e1509, 2015 | 43 | 2015 |
| Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B KM Gorman, E Meyer, MA Kurian European Journal of Paediatric Neurology 22 (2), 245-256, 2018 | 40 | 2018 |
| DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia J Ng, E Cortès‐Saladelafont, L Abela, P Termsarasab, K Mankad, ... Movement Disorders 35 (8), 1357-1368, 2020 | 28 | 2020 |
| Novel European SLC1A4 variant: infantile spasms and population ancestry analysis J Conroy, NM Allen, K Gorman, E O'halloran, A Shahwan, B Lynch, ... Journal of human genetics 61 (8), 761-764, 2016 | 28 | 2016 |
| Vaccine hesitancy and reported non-vaccination in an Irish pediatric outpatient population SO Whelan, F Moriarty, L Lawlor, KM Gorman, J Beamish European Journal of Pediatrics 180, 2839-2847, 2021 | 26 | 2021 |
| Catalogue of inherited disorders found among the Irish Traveller population SA Lynch, E Crushell, DM Lambert, N Byrne, K Gorman, MD King, ... Journal of Medical Genetics 55 (4), 233-239, 2018 | 26 | 2018 |
| SCN2A p. Ala263Val variant a phenotype of neonatal seizures followed by paroxysmal ataxia in toddlers KM Gorman, MD King Pediatric neurology 67, 111-112, 2017 | 26 | 2017 |
| NAPB – a novel SNARE‐associated protein for early‐onset epileptic encephalopathy J Conroy, NM Allen, KM Gorman, A Shahwan, S Ennis, SA Lynch, ... Clinical Genetics 89 (2), E1-E3, 2016 | 26 | 2016 |
| Paroxysmal movement disorders S Harvey, MD King, KM Gorman Frontiers in neurology 12, 659064, 2021 | 22 | 2021 |
| RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood S Zagaglia, D Steel, S Krithika, L Hernandez-Hernandez, HM Custodio, ... Neurology 96 (11), e1539-e1550, 2021 | 17 | 2021 |
Sally Ann LynchCHI @Crumlin, Dublin, IrelandVerified email at ucd.ie
