By Dr Elizabeth Emma Palmer

Journal articles

Curic E; Ewans L; Pysar R; Taylan F; Botto LD; Nordgren A; Gahl W; Palmer EE, 2023, 'International Undiagnosed Diseases Programs (UDPs): components and outcomes', Orphanet Journal of Rare Diseases, 18, http://dx.doi.org/10.1186/s13023-023-02966-1

Robertson EG; Roberts NJ; Le Marne F; Beavis E; Macintosh R; Kelada L; Best S; Goranitis I; Pierce K; Gill D; Sachdev R; Bye A; Palmer EE, 2023, '“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy', European Journal of Paediatric Neurology, 47, pp. 94 - 104, http://dx.doi.org/10.1016/j.ejpn.2023.09.010

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, 31, pp. 1057 - 1065, http://dx.doi.org/10.1038/s41431-023-01282-3

Lih OS; Jahmunah V; Palmer EE; Barua PD; Dogan S; Tuncer T; García S; Molinari F; Acharya UR, 2023, 'EpilepsyNet: Novel automated detection of epilepsy using transformer model with EEG signals from 121 patient population', Computers in Biology and Medicine, 164, http://dx.doi.org/10.1016/j.compbiomed.2023.107312

Dingemans AJM; Hinne M; Truijen KMG; Goltstein L; van Reeuwijk J; de Leeuw N; Schuurs-Hoeijmakers J; Pfundt R; Diets IJ; den Hoed J; de Boer E; Coenen-van der Spek J; Jansen S; van Bon BW; Jonis N; Ockeloen CW; Vulto-van Silfhout AT; Kleefstra T; Koolen DA; Campeau PM; Palmer EE; Van Esch H; Lyon GJ; Alkuraya FS; Rauch A; Marom R; Baralle D; van der Sluijs PJ; Santen GWE; Kooy RF; van Gerven MAJ; Vissers LELM; de Vries BBA, 2023, 'PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework', Nature Genetics, 55, pp. 1598 - 1607, http://dx.doi.org/10.1038/s41588-023-01469-w

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, http://dx.doi.org/10.1016/j.inffus.2023.03.022

Cioclu MC; Mosca I; Ambrosino P; Puzo D; Bayat A; Wortmann SB; Koch J; Strehlow V; Shirai K; Matsumoto N; Sanders SJ; Michaud V; Legendre M; Riva A; Striano P; Muhle H; Pendziwiat M; Lesca G; Mangano GD; Nardello R; Servettini I; Belperio G; Kamsteeg EJ; Takahashi K; Mitsuhashi S; Palmer EE; Bye AM; Madrigal I; Alvarez-Mora MI; Sánchez A; Meletti S; Helbig I; Le Tanno P; Gerard B; El Chehadeh S; Lemke JR; Møller RS; Soldovieri MV; Rubboli G; Taglialatela M, 2023, 'KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties', Annals of Neurology, 94, pp. 332 - 349, http://dx.doi.org/10.1002/ana.26662

Tasci G; Gun MV; Keles T; Tasci B; Barua PD; Tasci I; Dogan S; Baygin M; Palmer EE; Tuncer T; Ooi CP; Acharya UR, 2023, 'QLBP: Dynamic patterns-based feature extraction functions for automatic detection of mental health and cognitive conditions using EEG signals', Chaos, Solitons and Fractals, 172, http://dx.doi.org/10.1016/j.chaos.2023.113472

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 C; Coutton C, 2023, 'OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum', Journal of Medical Genetics, 60, pp. 620 - 626, http://dx.doi.org/10.1136/jmg-2022-108678

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, 36, pp. 973 - 987, http://dx.doi.org/10.1007/s10278-023-00789-x

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, http://dx.doi.org/10.1016/j.medengphy.2023.103971

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, http://dx.doi.org/10.1002/pbc.30394

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, http://dx.doi.org/10.1088/1361-6579/acb03c

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, http://dx.doi.org/10.1007/s00521-022-07999-4

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, http://dx.doi.org/10.1038/s41380-022-01852-9

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, http://dx.doi.org/10.1016/j.knosys.2022.110190

Luermans J; Fleming J; O'Shea R; Barlow-Stewart K; Palmer EE; Leffler M, 2023, '“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia', American Journal of Medical Genetics, Part A, http://dx.doi.org/10.1002/ajmg.a.63470

Abed RQ; Dikmen M; Aydemir E; Barua PD; Dogan S; Tuncer T; Palmer EE; Ciaccio EJ; Acharya UR, 2023, 'Automated reading level classification model based on improved orbital pattern', Multimedia Tools and Applications, http://dx.doi.org/10.1007/s11042-023-17535-8

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, http://dx.doi.org/10.1111/dmcn.15308

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, http://dx.doi.org/10.1002/ppul.26377

Robertson EG; Kelada L; Best S; Goranitis I; Pierce K; Roberts NJ; Sachdev R; Le Marne F; Macintosh R; Beavis E; Bye A; Palmer EE, 2023, 'Quality of life in caregivers of a child with a developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.15695

Palmer EE; Millis N; Farrar M; Zurynski Y; Baynam G; Jaffe A, 2023, 'Rare diseases: New approaches to diagnosis and care', Medicine Today, 24, pp. 69 - 76

Devi A; Palmer EE; Ganguly R; Barua PD, 2023, 'Teachers’ Educational Experiences and Preparedness in Teaching Students with Autism', Asia-Pacific Education Researcher, http://dx.doi.org/10.1007/s40299-022-00709-7

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, http://dx.doi.org/10.1016/j.neuropharm.2022.109295

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, http://dx.doi.org/10.1111/hex.13625

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, http://dx.doi.org/10.1038/s41598-022-21380-4

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, http://dx.doi.org/10.1038/s41525-022-00332-x

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, http://dx.doi.org/10.1016/j.pecinn.2021.100014

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, http://dx.doi.org/10.1177/13674935211033466

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, http://dx.doi.org/10.1186/s13023-022-02317-6

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, http://dx.doi.org/10.1136/bmjopen-2022-063249

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, http://dx.doi.org/10.1111/jpc.16202

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, http://dx.doi.org/10.1111/jpc.16187

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, http://dx.doi.org/10.1111/jpc.16165

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, http://dx.doi.org/10.3390/diagnostics12102544

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, http://dx.doi.org/10.1038/s41431-022-01162-2

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, http://dx.doi.org/10.1002/mdc3.13538

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, http://dx.doi.org/10.1016/j.cmpb.2022.107030

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, http://dx.doi.org/10.1212/WNL.0000000000200715

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, http://dx.doi.org/10.1016/j.compbiomed.2022.105525

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, http://dx.doi.org/10.1088/1361-6579/ac59dc

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, http://dx.doi.org/10.1038/s41431-021-01007-4

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, http://dx.doi.org/10.1016/j.ejpn.2022.01.022

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, http://dx.doi.org/10.1016/j.gim.2021.11.013

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, http://dx.doi.org/10.3390/ijerph19031192

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, http://dx.doi.org/10.1016/j.nbd.2021.105587

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, http://dx.doi.org/10.1007/s11571-022-09904-0

Palmer EE, 2022, 'Genetic testing for epilepsy: Why and when to think about it', Medicine Today, 23, pp. 59 - 67

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, http://dx.doi.org/10.1111/dmcn.14971

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, http://dx.doi.org/10.1016/j.gim.2021.09.001

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