Select Publications

Book Chapters

Palmer E, 2020, 'Potassium Channel Mutations in Epilepsy', in Bhattacharjee A (ed.), The Oxford Handbook of Neuronal Ion Channels, Oxford University Press, Oxford, UK,

Journal articles

Baygin M; Barua PD; Chakraborty S; Tuncer I; Dogan S; Palmer E; Tuncer T; Kamath AP; Ciaccio EJ; Acharya UR, 2023, 'CCPNet136: automated detection of schizophrenia using carbon chain pattern and iterative TQWT technique with EEG signals', Physiological measurement, vol. 44,

McKnight L; Schultz A; Vidic N; Palmer EE; Jaffe A, 2023, 'Learning to make a difference for chILD: Value creation through network collaboration and team science.', Pediatr Pulmonol,

Barua PD; Aydemir E; Dogan S; Erten M; Kaysi F; Tuncer T; Fujita H; Palmer E; Acharya UR, 2023, 'Novel favipiravir pattern-based learning model for automated detection of specific language impairment disorder using vowels', Neural Computing and Applications, vol. 35, pp. 6065 - 6077,

Palmer EE; Pusch M; Picollo A; Forwood C; Nguyen MH; Suckow V; Gibbons J; Hoff A; Sigfrid L; Megarbane A; Nizon M; Cogné B; Beneteau C; Alkuraya FS; Chedrawi A; Hashem MO; Stamberger H; Weckhuysen S; Vanlander A; Ceulemans B; Rajagopalan S; Nunn K; Arpin S; Raynaud M; Motter CS; Ward-Melver C; Janssens K; Meuwissen M; Beysen D; Dikow N; Grimmel M; Haack TB; Clement E; McTague A; Hunt D; Townshend S; Ward M; Richards LJ; Simons C; Costain G; Dupuis L; Mendoza-Londono R; Dudding-Byth T; Boyle J; Saunders C; Fleming E; El Chehadeh S; Spitz MA; Piton A; Gerard B; Abi Warde MT; Rea G; McKenna C; Douzgou S; Banka S; Akman C; Bain JM; Sands TT; Wilson GN; Silvertooth EJ; Miller L; Lederer D; Sachdev R; Macintosh R; Monestier O; Karadurmus D; Collins F; Carter M; Rohena L; Willemsen MH; Ockeloen CW; Pfundt R; Kroft SD; Field M; Laranjeira FER; Fortuna AM; Soares AR; Michaud V; Naudion S; Golla S; Weaver DD; Bird LM; Friedman J; Clowes V; Joss S; Pölsler L; Campeau PM; Blazo M; Bijlsma EK; Rosenfeld JA; Beetz C; Powis Z; McWalter K; Brandt T; Torti E; Mathot M; Mohammad SS; Armstrong R; Kalscheuer VM, 2023, 'Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition', Molecular Psychiatry, vol. 28, pp. 668 - 697,

Tasci G; Loh HW; Barua PD; Baygin M; Tasci B; Dogan S; Tuncer T; Palmer EE; Tan RS; Acharya UR, 2023, 'Automated accurate detection of depression using twin Pascal's triangles lattice pattern with EEG Signals', Knowledge-Based Systems, vol. 260, pp. 110190 - 110190,

Strnadová I; Loblinzk J; Scully JL; Danker J; Tso M; Jackaman KM; Dunn M; Willow SA; Sarfaraz S; Fitzgerald V; Boyle J; Palmer EE, 2023, '“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare', European Journal of Human Genetics,

Scheffer IE; Bennett CA; Gill D; de Silva MG; Boggs K; Marum J; Baker N; Palmer EE; Howell KB; Andrews I; Antony J; Ardern-Holmes S; Bye AM; Cardamone M; Chelakkadan S; Clark D; Curnow SR; Dabscheck G; Fahey MC; Freeman JL; Gupta S; Harvey AS; Hildebrand MS; Inder M; Kanhangad M; Kornberg AJ; Kothur K; Lawson JA; Leventer RJ; Malone S; Menezes MP; Mohammad S; Nagarajan L; Pillai S; Pridmore C; Procopis PG; Sampaio H; Silberstein J; Sinclair A; Smith N; Subramanian G; Troedson C; Ware T; White SM, 2023, 'Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice', Developmental Medicine and Child Neurology, vol. 65, pp. 50 - 57,

Muezzinoglu T; Baygin N; Tuncer I; Barua PD; Baygin M; Dogan S; Tuncer T; Palmer EE; Cheong KH; Acharya UR, 2023, 'PatchResNet: Multiple Patch Division–Based Deep Feature Fusion Framework for Brain Tumor Classification Using MRI Images', Journal of Digital Imaging,

Devi A; Palmer EE; Ganguly R; Barua PD, 2023, 'Teachers’ Educational Experiences and Preparedness in Teaching Students with Autism', Asia-Pacific Education Researcher,

Kuanyshbek A; Wang M; Anderson Å; Tuifua M; Palmer EE; Sachdev RK; Mu TW; Vetter I; Keramidas A, 2022, 'Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor', Neuropharmacology, vol. 221,

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

Barua PD; Baygin N; Dogan S; Baygin M; Arunkumar N; Fujita H; Tuncer T; Tan RS; Palmer E; Azizan MMB; Kadri NA; Acharya UR, 2022, 'Automated detection of pain levels using deep feature extraction from shutter blinds-based dynamic-sized horizontal patches with facial images', Scientific Reports, vol. 12,

Brett GR; Ward A; Bouffler SE; Palmer EE; Boggs K; Lynch F; Springer A; Nisselle A; Stark Z, 2022, 'Co-design, implementation, and evaluation of plain language genomic test reports', npj Genomic Medicine, vol. 7, pp. 61,

Kelada L; Wakefield CE; Drew D; Ooi CY; Palmer EE; Bye A; De Marchi S; Jaffe A; Kennedy S, 2022, 'Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning', Journal of Child Health Care, vol. 26, pp. 581 - 596,

Nguyen CQ; Alba-Concepcion K; Palmer EE; Scully JL; Millis N; Farrar MA, 2022, 'The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review', Orphanet Journal of Rare Diseases, vol. 17,

Robertson EG; Kelada L; Best S; Goranitis I; Grainger N; Le Marne F; Pierce K; Nevin SM; Macintosh R; Beavis E; Sachdev R; Bye A; Palmer EE, 2022, 'Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol', BMJ Open, vol. 12, pp. e063249,

Nevin SM; Beavis E; Macintosh R; Palmer EE; Sachdev R; Le Marne FA; Bye AME; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty', Journal of Paediatrics and Child Health, vol. 58, pp. 1722 - 1725,

Bye AME; Le Marne FA; Beavis E; Macintosh R; Nevin SM; Palmer EE; Sachdev R; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope', Journal of Paediatrics and Child Health, vol. 58, pp. 1726 - 1728,

Palmer EE; Sachdev R; Beavis E; Macintosh R; Le Marne FA; Nevin SM; Bye AME; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty', Journal of Paediatrics and Child Health, vol. 58, pp. 1718 - 1721,

Barua PD; Dogan S; Baygin M; Tuncer T; Palmer EE; Ciaccio EJ; Acharya UR, 2022, 'TMP19: A Novel Ternary Motif Pattern-Based ADHD Detection Model Using EEG Signals', Diagnostics, vol. 12,

Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T, 2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, vol. 30, pp. 1121 - 1131,

Wong WK; Troedson C; Dale RC; Roscioli T; Field M; Palmer E; Martin EM; Kumar KR; Mohammad SS, 2022, 'Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2', Movement Disorders Clinical Practice, vol. 9, pp. S32 - S35,

Kaplan E; Altunisik E; Ekmekyapar Firat Y; Datta Barua P; Dogan S; Baygin M; Burak Demir F; Tuncer T; Palmer E; Tan RS; Yu P; Soar J; Fujita H; Rajendra Acharya U, 2022, 'Novel nested patch-based feature extraction model for automated Parkinson's Disease symptom classification using MRI images', Computer Methods and Programs in Biomedicine, vol. 224,

Stamberger H; Crosiers D; Balagura G; Bonardi CM; Basu A; Cantalupo G; Chiesa V; Christensen J; Dalla Bernardina B; Ellis CA; Furia F; Gardiner F; Giron C; Guerrini R; Klein KM; Korff C; Krijtova H; Leffner M; Lerche H; Lesca G; Lewis-Smith D; Marini C; Marjanovic D; Mazzola L; McKeown Ruggiero S; Mochel F; Ramond F; Reif PS; Richard-Mornas A; Rosenow F; Schropp C; Thomas RH; Vignoli A; Weber Y; Palmer E; Helbig I; Scheffer IE; Striano P; Møller RS; Gardella E; Weckhuysen S, 2022, 'Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood', Neurology, vol. 99, pp. E221 - E233,

Loh HW; Ooi CP; Barua PD; Palmer EE; Molinari F; Acharya UR, 2022, 'Automated detection of ADHD: Current trends and future perspective', Computers in Biology and Medicine, vol. 146,

Tanko D; Barua PD; Dogan S; Tuncer T; Palmer E; Ciaccio EJ; Acharya UR, 2022, 'EPSPatNet86: Eight-pointed star pattern learning network for detection ADHD disorder using EEG signals', Physiological Measurement, vol. 43,

Palmer EE, 2022, 'Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics, vol. 30, pp. 258 - 259,

Nevin SM; Wakefield CE; Le Marne F; Beavis E; Macintosh R; Sachdev R; Bye A; Palmer EE; Nunn K, 2022, 'Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy', European Journal of Paediatric Neurology, vol. 37, pp. 129 - 138,

Strnadová I; Nevin SM; Scully JL; Palmer EE, 2022, 'The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review', Genetics in Medicine, vol. 24, pp. 535 - 548,

Barua PD; Vicnesh J; Gururajan R; Oh SL; Palmer E; Azizan MM; Kadri NA; Acharya UR, 2022, 'Artificial Intelligence Enabled Personalised Assistive Tools to Enhance Education of Children with Neurodevelopmental Disorders—A Review', International Journal of Environmental Research and Public Health, vol. 19,

van Rhijn JR; Shi Y; Bormann M; Mossink B; Frega M; Recaioglu H; Hakobjan M; Klein Gunnewiek T; Schoenmaker C; Palmer E; Faivre L; Kittel-Schneider S; Schubert D; Brunner H; Franke B; Nadif Kasri N, 2022, 'Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons', Neurobiology of Disease, vol. 163,

Barua PD; Vicnesh J; Lih OS; Palmer EE; Yamakawa T; Kobayashi M; Acharya UR, 2022, 'Artificial intelligence assisted tools for the detection of anxiety and depression leading to suicidal ideation in adolescents: a review', Cognitive Neurodynamics,

Celse T; Tingaud-Sequeira A; Dieterich K; Siegfried G; Lecaignec C; Bouneau L; Fannemel M; Salaun G; Laffargue F; Martinez G; Satre V; Vieville G; Bidart M; Soussi Zander C; Turesson AC; Splitt M; Reboul D; Chiesa J; Khau Van Kien P; Godin M; Gruchy N; Goel H; Palmer E; Demetriou K; Shalhoub C; Rooryck-Thambo C; Coutton C, 2022, 'OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum', Journal of Medical Genetics,

Nevin SM; Wakefield CE; Barlow-Stewart K; McGill BC; Bye A; Palmer EE; Dale RC; Gill D; Kothur K; Boggs K; Le Marne F; Beavis E; Macintosh R; Sachdev R, 2022, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, vol. 64, pp. 95 - 104,

Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, vol. 24, pp. 130 - 145,

Nevin SM; Wakefield CE; Dadich A; LeMarne F; Macintosh R; Beavis E; Sachdev R; Bye A; Nunn K; Palmer EE, 2022, 'Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies', PEC Innovation, vol. 1, pp. 100014 - 100014,

Inamdar MA; Raghavendra U; Gudigar A; Chakole Y; Hegde A; Menon GR; Barua P; Palmer EE; Cheong KH; Chan WY; Ciaccio EJ; Acharya UR, 2021, 'A review on computer aided diagnosis of acute brain stroke', Sensors, vol. 21,

Loh HW; Hong W; Ooi CP; Chakraborty S; Barua PD; Deo RC; Soar J; Palmer EE; Acharya UR, 2021, 'Application of deep learning models for automated identification of parkinson’s disease: A review (2011–2021)', Sensors, vol. 21,

Salian S; Scala M; Nguyen TTM; Severino M; Accogli A; Amadori E; Torella A; Pinelli M; Hudson B; Boothe M; Hurst A; Ben-Omran T; Larsen MJ; Fagerberg CR; Sperling L; Miceikaite I; Herissant L; Doco-Fenzy M; Jennesson M; Nigro V; Striano P; Minetti C; Sachdev RK; Palmer EE; Capra V; Campeau PM, 2021, 'Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins', Clinical Genetics, vol. 100, pp. 607 - 614,

Palmer EE; Whitton C; Hashem MO; Clark RD; Ramanathan S; Starr LJ; Velasco D; De Dios JK; Singh E; Cormier-Daire V; Chopra M; Rodan LH; Nellaker C; Lakhani S; Mallack EJ; Panzer K; Sidhu A; Wentzensen IM; Lacombe D; Michaud V; Alkuraya FS, 2021, 'CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum', Clinical Genetics, vol. 100, pp. 468 - 477,

Tremblay-Laganière C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; Christoforou M; Sultan T; Ladda RL; McLaughlin HM; Truty R; Mahida S; Cohen JS; Baranano K; Ismail FY; Patel MS; Lehman A; Edmondson AC; Nagy A; Walker MA; Mercimek-Andrews S; Maki Y; Sachdev R; Macintosh R; Palmer EE; Mancini GMS; Barakat TS; Steinfeld R; Rüsch CT; Stettner GM; Wagner M; Wortmann SB; Kini U; Brady AF; Stals KL; Ismayilova N; Ellard S; Bernardo D; Nugent K; McLean SD; Antonarakis SE; Houlden H; Kinoshita T; Campeau PM; Murakami Y, 2021, 'PIGG variant pathogenicity assessment reveals characteristic features within 19 families', Genetics in Medicine, vol. 23, pp. 1873 - 1881,

McKeon G; Palmer EE; Macintosh R; Nevin SM; Wheatley L; Rosenbaum S, 2021, 'Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy', Epilepsy and Behavior, vol. 121, pp. 108022,

Afrasiabi A; Keane JT; Ik-Tsen Heng J; Palmer EE; Lovell NH; Alinejad-Rokny H, 2021, 'Quantitative neurogenetics: Applications in understanding disease', Biochemical Society Transactions, vol. 49, pp. 1621 - 1631,

Loh HW; Ooi CP; Palmer E; Barua PD; Dogan S; Tuncer T; Baygin M; Rajendra Acharya U, 2021, 'Gaborpdnet: Gabor transformation and deep neural network for parkinson’s disease detection using eeg signals', Electronics (Switzerland), vol. 10, pp. 1740 - 1740,

Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, vol. 42, pp. 835 - 847,

Palmer EE; Howell K; Scheffer IE, 2021, 'Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies', Neurotherapeutics, vol. 18, pp. 1432 - 1444,

Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R; Sanlaville D; Sachdev R; Andrews I; Mari F; Cavalli A; Barba C; De Maria B; Garani G; Lemke JR; Mastrangelo M; Tam E; Donner E; Branson H; Monteiro FP; Kok F; Howell KB; Leech S; Mefford H; Muir A, 2021, 'ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria', Brain, vol. 144, pp. 1435 - 1450,

Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, vol. 96, pp. E1770 - E1782,

Baygin M; Dogan S; Tuncer T; Datta Barua P; Faust O; Arunkumar N; Abdulhay EW; Emma Palmer E; Rajendra Acharya U, 2021, 'Automated ASD detection using hybrid deep lightweight features extracted from EEG signals.', Comput Biol Med, vol. 134, pp. 104548,

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