Select Publications

Journal articles

Tasci I; Tasci B; Barua PD; Dogan S; Tuncer T; Palmer EE; Fujita H; Acharya UR, 2023, 'Epilepsy detection in 121 patient populations using hypercube pattern from EEG signals', Information Fusion, 96, pp. 252 - 268,

Kaplan E; Baygin M; Barua PD; Dogan S; Tuncer T; Altunisik E; Palmer EE; Acharya UR, 2023, 'ExHiF: Alzheimer's disease detection using exemplar histogram-based features with CT and MR images', Medical Engineering and Physics, 115, pp. 103971 - 103971,

Selvanathan A; Forwood C; Russell J; Batten K; Thompson S; Palmer EE; Macintosh R; Nightingale S; Mitchell R; Alvaro F; Dudding‐Byth T; Lunke S; Christodoulou J; Stark Z; White F; Jones SA; Bhattacharya K, 2023, 'Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease', Pediatric Blood and Cancer,

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, 44,

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, 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, 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, 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, 65, pp. 50 - 57,

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', Pediatric Pulmonology,

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, 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, 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, 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, 7, pp. 61,

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, 1, pp. 100014 - 100014,

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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 24, pp. 130 - 145,

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, 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, 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, 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, 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, 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, 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, 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), 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, 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, 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, 144, pp. 1435 - 1450,

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