By Dr Elizabeth Emma Palmer

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, http://dx.doi.org/10.1093/oxfordhb/9780190669164.013.13

Journal articles

Nevin SM; Le Marne FA; Kelada L; Wakefield CE; Beavis E; Macintosh R; Palmer EE; McLoughlin R; van Beek A; Wittekind C; Shalhoub C; Lau CYY; Elliot C; Rogers D; Wijetilaka D; Argent E; Cotterell E; Jacobson EE; McCarthy H; Sampaio H; Dalby-Payne J; Doyle K; Bhattacharya K; Lorentzos M; Slade R; Evans R; Pillai S; Mohammad S; Piper S; Sarkozy V; Stark K; Ging J; Sachdev R; Nunn K; Bye A, 2026, 'Connect, pause and reflect: Multidisciplinary clinicians’ shared challenges and sustaining strategies caring for children with Severe Neurological Impairment', European Journal of Paediatric Neurology, 60, pp. 15 - 23, http://dx.doi.org/10.1016/j.ejpn.2025.10.006

Ewans LJ; Pierce K; Farley E; Bowden R; Shalhoub C; Palmer EE, 2025, 'I've Never Heard of This! An Approach to Child and Family-Centred Care for Children and Young People With Rare Diseases.', J Paediatr Child Health, http://dx.doi.org/10.1111/jpc.70267

Pierce K; Murphy JB; Robertson EG; Khan JR; Bullock S; O’Loughlin CB; Loden M; McIntosh R; Beavis E; Roberts N; Palmer EE; Lingam R, 2025, '“Just realising that I wasn’t alone… was profound”: a mixed-methods evaluation of a pilot peer-to-peer wellbeing program for carers of children with rare epilepsies', Orphanet Journal of Rare Diseases, 20, http://dx.doi.org/10.1186/s13023-025-04036-0

Garrett A; Kalscheuer VM; Figueroa RR; Palmer EE; Morgan AT, 2025, 'CLCN4-Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities', American Journal of Medical Genetics Part A, 197, http://dx.doi.org/10.1002/ajmg.a.64192

Wong MMK; Kampen RA; Braden RO; Alagöz G; Hildebrand MS; Dingemans AJM; Corbally J; den Hoed J; Mendoza E; Claassen WJJ; Barnett C; Barnett M; Brusco A; Carli D; de Vries BBA; Elmslie F; Ferrero GB; Jansen NA; van de Laar IMBH; Moroni A; Mowat D; Murray L; Novara F; Peron A; Scheffer IE; Sirchia F; Turner SJ; Vignoli A; Vino A; Weber S; Chung WK; Gerard M; López-González V; Palmer E; Morgan AT; van Bon BW; Fisher SE, 2025, 'SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder', Nature Communications, 16, http://dx.doi.org/10.1038/s41467-025-64074-x

Jackaman KM; Strnadová I; Willow SA; Loblinzk Refalo J; Scully JL; Palmer EE; Terrill B; Bromwich S, 2025, 'Developing genetic literacy in high school students with intellectual disability: Teachers’ experiences and perspectives', European Journal of Human Genetics, 33, pp. 1530 - 1538, http://dx.doi.org/10.1038/s41431-025-01865-2

Tantsis EM; Mohammad SS; Paget SP; Virella-Perez YI; Han VX; Hadi D; Goldman C; Farrar MA; Fahey M; Dale RC; Alba-Concepcion K; Amor DJ; Tajudin TA; Badawi N; Barnes E; Bennetts B; Pazi HB; Ebrahimi-Fakhari D; Fehlings D; Ferriero DM; Friedman J; Gecz J; Ho G; Gupta S; Hunt RW; Kothur K; Kruer M; Kurian MA; Kyriagis M; Lee WT; McIntyre S; Méneret A; Mink JW; Morgan C; Morrow A; Nardocci N; Pagliano E; Palmer EE; Pearson TS; Pérez-Dueñas B; Roze E; Shevell M; te Velde A; Waugh MC; Willemsen MA; Wilson YA, 2025, 'Genetic testing in cerebral palsy with clinical and neuroimaging variables', Developmental Medicine and Child Neurology, 67, pp. 1443 - 1452, http://dx.doi.org/10.1111/dmcn.16323

Strnadová I; Dunn M; Molnar C; Loblinzk Refalo J; Scully JL; Danker J; Tso M; Lim TQ; Cathcart-King Y; Jackaman KM; Hayes S; Willow SA; Boyle J; Hansen J; Sarfaraz S; Basckin C; Halliburton C; Ganeshan TS; Middleton EK; Terrill B; Palmer EE, 2025, 'Erratum: “All doctors should be trained in that”: The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability (Genetics in Medicine (2025) 27(4), (S1098360025000188), (10.1016/j.gim.2025.101371))', Genetics in Medicine, 27, http://dx.doi.org/10.1016/j.gim.2025.101499

Robertson EG; Kelada L; Ilin R; Palmer EE; Bye A; Jaffe A; Kennedy SE; Ooi CY; Drew D; Wakefield CE, 2025, 'Psychological wellbeing among parents of a child living with a serious chronic illness: A cross-sectional survey study', Journal of Child Health Care, 29, pp. 626 - 641, http://dx.doi.org/10.1177/13674935241238485

Palmer EE; Recsei K; McKnight L; Roberts N; Baynam G; Zurynski Y; Farrar M; Healy L; Millis N; Jaffe A, 2025, '“You get left behind and lost in a complex world of rare care”: equity in access to rare disease care—learnings from the Australian Rare Disease Awareness, Education, Support, and Training (RArEST) project', Ebiomedicine, 115, http://dx.doi.org/10.1016/j.ebiom.2025.105710

Strnadová I; Dunn M; Molnar C; Loblinzk Refalo J; Scully JL; Danker J; Tso M; Lim TQ; Cathcart-King Y; Jackaman KM; Hayes S; Willow SA; Boyle J; Hansen J; Sarfaraz S; Basckin C; Halliburton C; Sri Ganeshan T; Middleton EK; Terrill B; Palmer EE; Loblinzk J; Bromwich S, 2025, '“All doctors should be trained in that”: The coproduction and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability', Genetics in Medicine, 27, pp. 101371, http://dx.doi.org/10.1016/j.gim.2025.101371

Meagher CE; Kariyawasam DS; Concepcion KAE; Dale R; Hetherington K; Mohammad S; Palmer EE; Woolfenden S; Farrar MA, 2025, 'Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: A mixed methods cross-sectional study', Archives of Disease in Childhood, 110, pp. 308 - 315, http://dx.doi.org/10.1136/archdischild-2024-327914

Macdonald-Laurs E; Leventer RJ; Perucca P; Cross JH; Lerche H; Esterhuizen AI; Lopes-Cendes I; Tsai MH; Berkovic SF; Lowenstein DH; Tan NCK; Helbig I; Mefford HC; Brunklaus A; Lesca G; Palmer EE; McTague A; Fakhfakh F; Delanty N, 2025, 'ILAE genetic literacy series: Focal cortical dysplasia', Epileptic Disorders, 27, pp. 1 - 8, http://dx.doi.org/10.1002/epd2.20308

Abouharb M; Baumgartner DD; Wilkes-Gillan S; Parsons D; Parsons L; Strnadová I; Palmer EE; Chen R; Munro N, 2025, 'Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia', Rare, 3, http://dx.doi.org/10.1016/j.rare.2025.100094

Kelada L; Best S; Pierce K; Allen M; Cobb J; Berens K; Goranitis I; Palmer EE; Scheffer IE; Howell KB, 2025, 'Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies', European Journal of Paediatric Neurology, 54, pp. 147 - 158, http://dx.doi.org/10.1016/j.ejpn.2025.01.007

Mirkovic N; McGlynn A; Abdi F; Tam M; Crampton R; Lim K-S; Palmer E; Taylor N; Harris-Roxas B, 2025, 'Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries', Journal of Primary Care & Community Health, 16, pp. 21501319241311567 - 21501319241311567, http://dx.doi.org/10.1177/21501319241311567

Dunn M; Strnadová I; Tso M; Mardones CP; Boyle J; Longhurst E; Refalo JL; Sarfaraz S; Terrill B; Palmer EE, 2025, 'Shared Decision-Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person-Centred, and Respectful Approaches', Journal of Paediatrics and Child Health, http://dx.doi.org/10.1111/jpc.70202

Broeren EC; Gitau VN; Byrne AB; Ajuyah P; Balzotti MB; Berg JS; Bluske K; Bowen BM; Brown MP; Buchanan A; Burns BT; Burns NJ; Chandrasekhar A; Chawla A; Chong JX; Chopra M; Clause AR; DiStefano MT; DiTroia S; Elnagheeb MA; Girod AN; Goel H; Golden-Grant KL; Ha T; Hamosh A; Huang JM; Hughes MY; Jamuar SS; Kam S; Kesari A; Koh AL; Lassiter RNT; Leigh SE; Lemire G; Lim JY; Malhotra A; McCurry HR; Milewski B; Moosa S; Murray SA; Owens EH; Palmer EE; Palus BC; Patel MJ; Rajkumar R; Ratliff JC; Raymond FL; Della Ripa Rodrigues Assis B; Sajan SA; Schlachetzki Z; Schmidt SA; Stark Z; Strom SP; Taylor JP; Thaxton C; Thrush DL; Toro S; Tshering KC; Vasilevsky NA; Wayburn B; Webb RF; O'Donnell-Luria A; Coffey AJ, 2025, 'The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships', Genetics in Medicine Open, 3, http://dx.doi.org/10.1016/j.gimo.2025.103429

Palmer EE; Cederroth H; Cederroth M; Delgado-Vega AM; Roberts N; Taylan F; Nordgren A; Botto LD, 2024, 'Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International', Npj Genomic Medicine, 9, http://dx.doi.org/10.1038/s41525-024-00422-y

Nevin SM; Le Marne FA; Beavis E; Macintosh R; Palmer EE; Sachdev R; Nunn K; Bye A; van Beek A; Wittekind C; Shalhoub C; Lau CYY; Elliot C; Rogers D; Wijetilaka D; Argent E; Cotterell E; Jacobson EE; McCarthy H; Sampaio H; Dalby-Payne J; Ging J; Doyle K; Bhattacharya K; Stark K; Lorentzos M; Slade R; Evans R; Pillai S; Mohammad S; Piper S; Sarkozy V, 2024, 'Psychosocial experiences of clinicians providing care for children with severe neurological impairment', Developmental Medicine and Child Neurology, 66, pp. 1622 - 1631, http://dx.doi.org/10.1111/dmcn.15987

Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Bilgrav Saether K; Höijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjö A; Hammond CK; Hatirnaz Ng Ö; Hesketh S; Hettiarachchi D; Johansson Soller M; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Lysenkova Wiklander M; Makay P; Maiga AB; Maya-González C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjö S; Ottosson J; Ozbek U; Özdemir Ö; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; Posada de la Paz M; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin EL; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tümer Z; van Zelst-Stams WAG; Verloes A; Västerviga E; Wang S; Yang R; Yamamoto S; Yépez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V, 2024, 'Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon', Nature Genetics, 56, pp. 2287 - 2294, http://dx.doi.org/10.1038/s41588-024-01941-1

McKnight L; Schultz A; Vidic N; Palmer EE; Jaffe A, 2024, 'Learning to make a difference for chILD: Value creation through network collaboration and team science', Pediatric Pulmonology, 59, pp. 2257 - 2266, http://dx.doi.org/10.1002/ppul.26377

Chen Y; Dawes R; Kim HC; Ljungdahl A; Stenton SL; Walker S; Lord J; Lemire G; Martin-Geary AC; Ganesh VS; Ma J; Ellingford JM; Delage E; D’Souza EN; Dong S; Adams DR; Allan K; Bakshi M; Baldwin EE; Berger SI; Bernstein JA; Bhatnagar I; Blair E; Brown NJ; Burrage LC; Chapman K; Coman DJ; Compton AG; Cunningham CA; D’Souza P; Danecek P; Délot EC; Dias KR; Elias ER; Elmslie F; Evans CA; Ewans L; Ezell K; Fraser JL; Gallacher L; Genetti CA; Goriely A; Grant CL; Haack T; Higgs JE; Hinch AG; Hurles ME; Kuechler A; Lachlan KL; Lalani SR; Lecoquierre F; Leitão E; Fevre AL; Leventer RJ; Liebelt JE; Lindsay S; Lockhart PJ; Ma AS; Macnamara EF; Mansour S; Maurer TM; Mendez HR; Metcalfe K; Montgomery SB; Moosajee M; Nassogne MC; Neumann S; O’Donoghue M; O’Leary M; Palmer EE; Pattani N; Phillips J; Pitsava G; Pysar R; Rehm HL; Reuter CM; Revencu N; Riess A; Rius R; Rodan L; Roscioli T; Rosenfeld JA; Sachdev R; Shaw-Smith CJ; Simons C; Sisodiya SM; Snell P; St Clair L; Stark Z; Stewart HS; Tan TY; Tan NB; Temple SEL; Thorburn DR; Tifft CJ; Uebergang E; VanNoy GE; Vasudevan P; Vilain E; Viskochil DH, 2024, 'De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome', Nature, 632, pp. 832 - 840, http://dx.doi.org/10.1038/s41586-024-07773-7

Nguyen CQ; Kariyawasam DST; Ngai TSJ; Nguyen J; Alba-Concepcion K; Grattan SE; Palmer EE; Hetherington K; Wakefield CE; Dale RC; Woolfenden S; Mohammad S; Farrar MA, 2024, '‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases', Health Expectations, 27, http://dx.doi.org/10.1111/hex.14063

Morison LD; Kennis MGP; Rots D; Bouman A; Kummeling J; Palmer E; Vogel AP; Liegeois F; Brignell A; Srivastava S; Frazier Z; Milnes D; Goel H; Amor DJ; Scheffer IE; Kleefstra T; Morgan AT, 2024, 'Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals', Journal of Medical Genetics, 61, pp. 578 - 585, http://dx.doi.org/10.1136/jmg-2023-109702

Abed RQ; Dikmen M; Aydemir E; Barua PD; Dogan S; Tuncer T; Palmer EE; Ciaccio EJ; Acharya UR, 2024, 'Automated reading level classification model based on improved orbital pattern', Multimedia Tools and Applications, 83, pp. 52819 - 52840, http://dx.doi.org/10.1007/s11042-023-17535-8

Dunn M; Strnadová I; Scully JL; Hansen J; Loblinzk J; Sarfaraz S; Molnar C; Palmer EE, 2024, 'Equitable and accessible informed healthcare consent process for people with intellectual disability: a systematic literature review', BMJ Quality and Safety, 33, pp. 328 - 339, http://dx.doi.org/10.1136/bmjqs-2023-016113

Tuncer T; Dogan S; Baygin M; Barua PD; Palmer EE; March S; Ciaccio EJ; Tan RS; Acharya UR, 2024, 'FLP: Factor lattice pattern-based automated detection of Parkinson's disease and specific language impairment using recorded speech', Computers in Biology and Medicine, 173, http://dx.doi.org/10.1016/j.compbiomed.2024.108280

Luermans J; Fleming J; O'Shea R; Barlow-Stewart K; Palmer EE; Leffler M, 2024, '“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, 194, http://dx.doi.org/10.1002/ajmg.a.63470

Barua PD; Vicnesh J; Lih OS; Palmer EE; Yamakawa T; Kobayashi M; Acharya UR, 2024, 'Artificial intelligence assisted tools for the detection of anxiety and depression leading to suicidal ideation in adolescents: a review', Cognitive Neurodynamics, 18, pp. 1 - 22, http://dx.doi.org/10.1007/s11571-022-09904-0

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, 2024, 'Quality of life in caregivers of a child with a developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 66, pp. 206 - 215, http://dx.doi.org/10.1111/dmcn.15695

Devi A; Palmer EE; Ganguly R; Barua PD, 2024, 'Teachers’ Educational Experiences and Preparedness in Teaching Students with Autism', Asia Pacific Education Researcher, 33, pp. 71 - 81, http://dx.doi.org/10.1007/s40299-022-00709-7

Molnar C; Strnadová I; Dunn M; Loblinzk J; Sarfaraz S; Cathcart-King Y; Tso M; Danker J; Hayes S; Willow SA; Hansen J; Lim TQ; Boyle J; Terrill B; Scully JL; Palmer EE; Bromwich S, 2024, 'The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability', Frontiers in Psychiatry, 15, pp. 1346423, http://dx.doi.org/10.3389/fpsyt.2024.1346423

Cederroth H; Cellini B; Gonzaga-Jauregui C; Han J; Umair M; Palmer E; van Zelst-Stams W, 2024, 'The power of diversity!', Rare, 2, http://dx.doi.org/10.1016/j.rare.2024.100024

Scott HS; Matotek E; Mattiske T; Bryson-Richardson RJ; Smyth I; Gecz J; Christodoulou J; Palpant N; Smith K; Warr C; Bennetts B; Thomas P; Bowles J; Hilliard M; Hime G; Hool L; Quinn L; Wolvetang E; Jamieson R; Baynam G; Dudding-Byth T; Tan TY; Milnes D; Wallis M; Palmer E; Patel C; Jones K; Tam P; Stark Z; Dunwoodie S; Sinclair A, 2024, 'How the Australian Functional Genomics Network (AFGN) contributes to improved patient care', Pathology, 56, pp. S21 - S22, http://dx.doi.org/10.1016/j.pathol.2023.12.084

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, pp. 348, 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; Bromwich S, 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

Back to profile page