By Associate Professor 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

Smith MC; Wang Q; Pierce KE; Marsilio K; Wakefield CE; Howell KB; Palmer EE; Kelada L, 2026, 'The psychosocial supports and interventions accessed by family members of patients with developmental and epileptic encephalopathies: A systematic review', Epilepsy and Behavior, 184, http://dx.doi.org/10.1016/j.yebeh.2026.111185

Saad R; Cobolli Gigli C; van der Sluijs PJ; Wilson JR; Hsieh TC; McConnell VPM; Bacino CA; Bird LM; Adam S; Clarke L; Cobben JM; Travessa AM; Faivre L; Farholt S; Gregersen PA; van Hasselt J; Lahiri N; Palmer EE; Sheffer R; Clayton-Smith J; Wilnai Y; Deshpande C; Morton JEV; Clement E; Santen GWE; Dias C, 2026, 'Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders', Genetics in Medicine, 28, http://dx.doi.org/10.1016/j.gim.2026.102614

Duz MB; Lasa-Aranzasti A; Cazurro-Gutiérrez A; Hackett A; Cueto-González AM; Périco AA; Ruivenkamp CAL; Gómez-Andrés D; Curic E; Palmer EE; Jones EA; Aliu E; Veenstra-Knol HE; Goel H; Marti IC; Legebeke J; Klein Wassink-Ruiter JS; Ewans L; Thomas MA; Codina-Solà M; den Hollander NS; Martínez-Gil N; Gates R; Kana SL; McKee S; Banka S; Sell S; Chung WK, 2026, 'Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome', BMC Medical Genomics, http://dx.doi.org/10.1186/s12920-026-02448-w

Recsei K; Lissiman E; Knight A; Gundru H; Roberts N; McKnight L; Jaffe A; Palmer EE, 2026, 'Clarifying the complex: New guidance for rare disease care', Australian Journal of General Practice, 55, pp. 569 - 573, http://dx.doi.org/10.31128/AJGP-07-25-7737

Strnadová I; Tso M; Loblinzk Refalo J; Roberts N; Danker J; Sarfaraz S; Boyle J; Terrill B; Halliburton C; Pantoja Mardones C; Hayes S; Hurd S; King C; Barlow-Stewart K; Evans E; Leonard H; Mar Fan H; Rodgers J; Vella Y; McGaughran J; Best S; Turbitt E; Scully JL; Pratt G; Palmer EE, 2026, 'Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability', BMJ Open, 16, http://dx.doi.org/10.1136/bmjopen-2025-110086

Bouman A; Gaasterland CMW; Sloof-Enthoven C; Draksler TZ; Rots D; Vermeulen-Kalk K; Geelen JM; Morison LD; Morgan AT; Wicher D; Rivero S; Fernández-Ulibarri I; Drake J; O’Donnell Luria A; Pickup L; Shalhoub C; Milani D; Hennekam RC; Tumiene B; Dies KA; Garavelli L; Bedeschi MF; Danieli A; van Renssen LV; Palmer EE; Grosdemouge I; Hadzsiev K; Ousager LB; Frazier Z; Chopra M; Szakszon K; Ewans L; Srivastava S; Balbo N; Caterino E; Schenck A; Smith R; Boonstra FN; van Till SAL; Vasireddi SK; Brian Chung HY; Klein Haneveld MJ; Vyshka K; Hugon A; van Eeghen AM; Haneveld MJK; Kleefstra T, 2026, 'International clinical evidence-based guideline for Kleefstra syndrome', Genetics in Medicine, 28, http://dx.doi.org/10.1016/j.gim.2026.102070

Jadhav T; Bouffler SE; Innes E; Fahey M; Hunter M; Kothur K; Lunke S; Lynch M; Macdonald-Laurs E; Palmer EE; Patel C; Pinner J; Riney K; Sachdev R; Sandaradura SA; Scheffer IE; Stark Z; Howell KB, 2026, 'KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity', Epilepsia Open, 11, pp. 949 - 961, http://dx.doi.org/10.1002/epi4.70266

Tibbe D; Vogt MR; Holling T; Schlieben LD; Kortüm F; Shoukier M; Bagowski C; Distelmaier F; Averdunk L; Knaus A; Krawitz P; Kuechler A; Lainka E; Stalke A; von Hardenberg S; Auber B; Pfister ED; Reversade B; Sabbagh A; Bertoli-Avella AM; Alawbathani S; Palmer EE; Chauhan M; Rius R; Kim Y; Papingi D; Bartholdi D; Braun D; Maier O; Dinwiddie A; Steichen-Gersdorf E; Janecke AR; Tiulpakov A; Zernov N; Arismendi MI; Jorge AAL; Goel H; Dreyer L; Loughman L; Prokisch H; Borgmann K; Kutsche K, 2026, 'Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism', American Journal of Human Genetics, 113, pp. 1067 - 1089, http://dx.doi.org/10.1016/j.ajhg.2026.03.010

Hansen J; Strnadová I; Danker J; Jackaman KM; Loblinzk Refalo OAM J; Sarfaraz S; Leach Scully J; Boyle J; Terrill B; Palmer EE, 2026, '“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education', European Journal of Human Genetics, 34, pp. 491 - 497, http://dx.doi.org/10.1038/s41431-026-02041-w

Jackson A; Blakes AJM; Alhaddad B; Henry OJ; Delgado-Vega AM; Wall E; Abdelhadi O; Agrawal S; Bakur K; Blair E; Brady AF; Brittain H; Chandler KE; Clarke N; Danelli M; Drinkall N; Duba I; Elmslie F; Ellingford J; Ewans LJ; Fennell AP; Gazdagh G; Heller SP; Hammarsjö A; Karrman K; Kini U; Lesko N; Lindstrand A; Macintosh R; Mansour S; Menzies L; Metcalfe K; Milhench A; Nashef L; O’Keefe RT; Pacheco NP; Palmer EE; Parida A; Prescott K; Redman M; Renieri A; Fallerini C; Rizzo CL; Sachdev R; Simons C; Sisodiya SM; Stewart H; Stödberg T; Banos-Pinero B; Taylan F; Thomas HB; Tinella F; Wiafe S; Wedell A; Whiffin N; Walker S; Rius R; Chae JH; Nordgren A; Alkuraya F; Lord J; Banka S, 2026, 'Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy', Nature Genetics, 58, pp. 798 - 809, http://dx.doi.org/10.1038/s41588-026-02551-9

Lim NY; Meagher CE; Bye A; Lorentzos M; Dale RC; Mohammad S; Howell KB; Palmer EE; Woodcock IR; Macdonald-Laurs E; Preisz A; Badawi N; Cooper ST; Hille SC; Trahair TN; Cairns A; Smith N; Farrar MA; Kariyawasam DS, 2026, 'Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders', Neurotherapeutics, 23, http://dx.doi.org/10.1016/j.neurot.2026.e00921

Atas Y; Kırık S; Yıldırım K; Tasci B; Barua PD; Balgetir F; Dogan S; Tuncer T; Tan R-S; Palmer E; Devi A; Acharya UR, 2026, 'Explainable electroencephalography-based attention-deficit/hyperactivity disorder detection model with a combination of ternary pattern and twin wavelet transform', World Journal of Psychiatry, 16, http://dx.doi.org/10.5498/wjp.v16.i3.112962

Nevin SM; Le Marne FA; Briggs NE; 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, 'Codesigned toolkit for multidisciplinary clinicians caring for children with severe neurological impairment', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.70336

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

Mirkovic N; Elias J; Palmer E; Harris-Roxas B; Taylor N, 2026, 'Applicability of the Consolidated Framework for Implementation Research to integrated care: insights from three case studies', JBI Evidence Implementation, pp. 10.1097/XEB.0000000000000619 - 10.1097/XEB.0000000000000619, http://dx.doi.org/10.1097/XEB.0000000000000619

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

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', Journal of Paediatrics and Child Health, http://dx.doi.org/10.1111/jpc.70267

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

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