By Associate Professor Elizabeth Emma Palmer

Preprints

Bennett JJ; Ibrahim H; Männistö JME; Timonen M; Hopkinson JR; Saarimäki-Vire J; Vasiliadis M; Muhamad MF; Saint-Martin C; Arnoux J-B; Neylon O; Okiro J; Houghton JAL; Wakeling MN; Laver TW; Johnson MB; Hattersley AT; Eurola S; Vähäkangas E; Montaser H; Neville K; Lau SM; Palmer E; Costigan C; Divilly P; Crowley RK; Swan N; Gibney J; O’Shea D; Rahman Y; Riley LG; Balboa D; Owens NDL; Otonkoski T; Flanagan SE, 2025, A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism, http://dx.doi.org/10.64898/2025.12.16.25342131

Palmer E; Danker J; Strnadová I; Loblinzk J; Jackaman K-M; Scully JL; Dunn M; Sarfaraz S; Tso M; Boyle J; Fitzgerald V; Classen1 SCS, “I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare., http://dx.doi.org/10.21203/rs.3.rs-2150970/v1

Strnadová I; Hansen J; Danker J; Jackaman K-M; Loblinzk J; Sarfaraz S; Scully JL; Boyle J; Terrill B; Palmer E, “It was up to me to be curious”: Perceptions and Experiences of Students with Intellectual Disability on Genetics and Health Education, http://dx.doi.org/10.21203/rs.3.rs-5635751/v1

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, “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, http://dx.doi.org/10.21203/rs.3.rs-6249195/v1

Dunn M; Smith J; Horne CR; Wilson M; Palmer EE; Young SN; Rius R; Scott JW; Martin EM; Pysar R; Casauria S; Carr M; Gray C; Wedd L; Murphy JM; Christodoulou J; Consortium U-A, A novel gain of function variant in NUAK2 causes oculomotor apraxia in a three-generation family, http://dx.doi.org/10.21203/rs.3.rs-10210625/v1

Jackson A; Blakes AJ; Wall E; Clarke N; Abdelhadi O; Agrawal S; Blair E; Brady AF; Brittain H; Chandler KE; Drinkall N; Elmslie F; Ewans L; Fennell A; Gazdagh G; Kini U; Macintosh R; Mansour S; Menzies L; Metcalfe K; Milhench A; Palmer E; Parida A; Prescott K; Redman M; Renieri A; Rius R; Rizzo CL; Sachdev R; Simons C; Sisodiya S; Stewart H; Thomas H; Tinella F; Walker S; Whiffin N; O’Keefe RT; Lord J; Banka S, Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy, http://dx.doi.org/10.1101/2025.09.02.25334957

Shi Y; van Rhijn J-R; Bormann M; Mossink B; Frega M; Recaioglu H; Hakobjan M; Gunnewiek TK; Schoenmaker C; Palmer E; Faivre L; Kittel-Schneider S; Schubert D; Brunner H; Franke B; Kasri NN, Brunner syndrome associated MAOA dysfunction in human dopaminergic neurons results in NMDAR hyperfunction and increased network activity, http://dx.doi.org/10.1101/2020.10.28.359224

Brett G; Ward A; Bouffler S; Palmer E; Boggs K; Lynch F; Springer A; Nisselle A; Stark Z, Co-design, implementation, and evaluation of plain language genomic test reports, http://dx.doi.org/10.21203/rs.3.rs-1721168/v1

Chen Y; Dawes R; Kim HC; Stenton SL; Walker S; Ljungdahl A; Lord J; Ganesh VS; Ma J; Martin-Geary AC; Lemire G; D’Souza EN; Dong S; Ellingford JM; Adams DR; Allan K; Bakshi M; Baldwin EE; Berger SI; Bernstein JA; Brown NJ; Burrage LC; Chapman K; Compton AG; Cunningham CA; D’Souza P; Délot EC; Dias K-R; Elias ER; Evans C-A; Ewans L; Ezell K; Fraser JL; Gallacher L; Genetti CA; Grant CL; Haack T; Kuechler A; Lalani SR; Leitão E; Le Fevre A; Leventer RJ; Liebelt JE; Lockhart PJ; S A; Macnamara EF; Maurer TM; Mendez HR; Montgomery SB; Nassogne M-C; Neumann S; O’Leary M; Palmer EE; Phillips J; Pitsava G; Pysar R; Rehm HL; Reuter CM; Revencu N; Riess A; Rius R; Rodan L; Roscioli T; Rosenfeld JA; Sachdev R; Simons C; Sisodiya SM; Snell P; St Clair L; Stark Z; Tan TY; Tan NB; Temple SE; Thorburn DR; Tifft CJ; Uebergang E; VanNoy GE; Vilain E; Viskochil DH; Wedd L; Wheeler MT; White SM; Wojcik M; Wolfe LA; Wolfenson Z; Xiao C; Zocche D; Rubenstein JL; Markenscoff-Papadimitriou E; Fica SM; Baralle D; Depienne C; MacArthur DG; Howson JM; Sanders SJ; O’Donnell-Luria A; Whiffin N, De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders, http://dx.doi.org/10.1101/2024.04.07.24305438

Martin EM; Harris M; Stait T; Casauria S; Pierini E; White SM; Hermes A; McGaughran J; Rius R; MacArthur DG; Lassmann T; Richmond C; Smith J; Wallis M; Sallevelt S; Field M; Cunningham C; Stroud DA; Sadedin S; Dudding-Byth T; Cooper S; Goranitis I; Deveson IW; LeBlanc S; Walsh M; Bodek S; Fennell AP; Krzesinski E; Jelenich S; Madelli EO; Austin R; Pysar R; Thompson H; Cilento L; Dreyer L; Wilkins EJ; Lynch E; Carr M; Zurita E; Broadbent J; Kooshavar D; Wedd L; Zhang E; Zhao T; Gray C; Formaini E; Hajjari M; Richards C; Gonzalez FS; Simons C; Boughtwood T; Palmer EE; Tan TY; Baynam G; Christodoulou J, Establishing The Australian Undiagnosed Disease Network (UDN-Aus); Australia’s first national rare disease diagnostic network, http://dx.doi.org/10.21203/rs.3.rs-8091344/v1

Dunn M; Strnadová I; Scully JL; Hansen J; Palmer EE, Exploring the Barriers and Enablers for the Equitable and Accessible Informed Healthcare Consent Process for People with Intellectual Disability: A Systematic Literature Review, http://dx.doi.org/10.1101/2023.03.06.23286791

McKnight L; Schultz A; Vidic N; Palmer E; Jaffe A, Learning to make a difference for chILD: Value creation through network collaboration and team science, http://dx.doi.org/10.22541/au.166740302.29601419/v1

Wong MM; Kampen RA; Braden RO; Alagöz G; Hildebrand MS; Barnett C; Barnett M; Brusco A; Carli D; de Vries BB; Dingemans AJ; Elmslie F; Ferrero GB; Jansen NA; van de Laar IM; 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, SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder, http://dx.doi.org/10.1101/2022.03.04.22271462

Back to profile page