By Associate Professor Elizabeth Emma Palmer

Conference Papers

Gecz J; Bhattacharjee R; Palmer E; Gardner A; Carroll R; Wee IC; Mazurkiewicz D; Perez-Jurado L; Ritchie T; Corbett M; Van Eyk C; Piltz S; White M; Collins-Praino L; Jolly L; Thomas P; Field M; Kumar R, 2024, 'Genetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1755 - 1755, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

Gecz J; Bhattacharjee R; Palmer E; Gardner A; Carroll R; Wee IC; Mazurkiewicz D; Perez-Jurado L; Ritchie T; Corbett M; Van Eyk C; Piltz S; White M; Collins-Praino L; Jolly L; Thomas P; Field M; Kumar R, 2024, 'Genetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1755 - 1755, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

Hopkins J; Mannisto J; Hopkinson J; Wakeling M; Costigan C; Crowley R; Gibney J; Muhamad MF; Neylon O; O'Shea D; Okiro J; Palmer E; Swann N; Houghton J; Otonkoski T; Flanagan S, 2024, 'A novel 94bp deletion in the SLC16A1 promoter causes fasting and exercise-induced hyperinsulinaemic hypoglycaemia', in HORMONE RESEARCH IN PAEDIATRICS, KARGER, pp. 83 - 83

Morison L; Kennis M; Palmer E; Vogel A; Liegeois F; Brignell A; Srivastava S; Frazier Z; Milnes D; Goel H; Amor D; Kleefstra T; Scheffer I; Morgan A, 2023, 'Speech and language abilities in individuals with Kleefstra Syndrome', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, SCOTLAND, Glasgow, pp. 453 - 454, presented at 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), SCOTLAND, Glasgow, 10 June 2023 - 13 June 2023

Palmer EE; Caroll R; Shaw M; Kumar R; Nawaz U; Minoche A; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J, 2020, 'RLIM is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 995 - 996, http://dx.doi.org/10.26190/unsworks/28005

Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Genevieve D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T, 2016, 'THE MOLECULAR AND PHENOTYPIC SPECTRUM OF IQSEC2 RELATED EPILEPSY', in EPILEPSIA, WILEY, pp. 21 - 22

Conference Abstracts

Zurynski1 Y; McKnight L; Rojas C; Palmer EE; Farrar M; Recsei K; Roberts N; Millis N; Healy L; Baynam G; Hutchinson K, 2026, '“There's huge value in just bringing people together”: A rare disease organisation community of practice for integrated rare disease care', in International Journal of Integrated Care, Ubiquity Press, Vol. 26, pp. 437, http://dx.doi.org/10.5334/ijic.icic25437

Tremblay-Laganiere C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; 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; Rusch 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, 2022, 'PIGG variant pathogenicity assessment reveals novel features within nineteen families', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 30, pp. 274 - 274, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367701182&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27545

Luermans J; Fleming J; O'Shea R; Field M; Palmer E; Leffler M, 2019, 'Exploring the experiences and support needs of non-carrier fathers of children with fragile X syndrome', in European Journal of Human Genetics, Springer Nature [academic journals on nature.com], SWEDEN, Gothenburg, Vol. 277, pp. 1781 - 1782, presented at European Society of Human Genetics, SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27453

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche A; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger ME; Rosenfeld JA; Xiao R; Cho MT; Henderson LB; Sacoto MJG; Begtrup A; Hamad M; Shinawi M; Andrews M; Jones MC; Lindstrom K; Kayani S; Snyder M; Villanueva M; Schteinschnaider A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko L; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2018, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, ITALY, Milan, Vol. 27, pp. 213 - 214, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018

Sa MJN; Jensik PJ; Parker MJ; Lahiri N; McNeil EP; Hibbs K; Kroes HY; Stumpel CTRM; Stegmann APA; Hagerman RJ; Harrison RE; Splitt M; Montgomery T; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Cobben J; Marco EJ; de Vries BBA; Vulto-vanSilfhout AT; Palmer E, 2018, 'Different mutations in DEAF1 lead to clinically distinct dominant and recessive forms of intellectual disability', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, ITALY, Milan, Vol. 27, pp. 218 - 219, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, http://dx.doi.org/10.26190/unsworks/27465

Azzarello-Burri S; Joset P; andrieux J; Lopes F; Palmer E; Czeschik J; Demeer B; Duque F; Kuechler A; Maciel P, 2018, 'Further delineation of a novel 2q11. 1q11. 2 micro-duplication syndrome', in European Journal of Human Genetics, Springer Nature [academic journals on nature.com], Vol. 26, pp. 326 - 326, presented at European society of human genetics

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

Other

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST; Palmer E, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), Elsevier, http://dx.doi.org/10.1016/j.ajhg.2019.03.016

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