By Dr Elizabeth Emma Palmer

Conference Papers

McKnight L; Roberts N; Recsei K; Balasooriya C; Farrar M; Millis N; Healy L; Baynam G; Gannon S; Lissiman E; Zurynski Y; Jaffe A; Palmer E, 2024, 'Co-designing Clinical Educational Resources and National Guidelines to Address Inequity of Access to Rare Disease Care in Australia', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1819 - 1819, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

Samarasekera R; Xiao P; Pysar R; Luca S; Palmer E; Hayeems R; Ewans L, 2024, 'Evaluation of clinical utility of genetic and genomic testing using the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) in the Sydney Children's Hospitals Network, Australia', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1826 - 1827, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

Samarasekera R; Xiao P; Pysar R; Luca S; Palmer E; Hayeems R; Ewans L, 2024, 'Evaluation of clinical utility of genetic and genomic testing using the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) in the Sydney Children's Hospitals Network, Australia.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1826 - 1827, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

Strnadova I; Jackaman K-M; Hansen J; Loblinzk J; Dunn M; Sarfaraz S; Hurd S; Danker J; Tso M; Willow SA; Molnar C; Boyle J; Scully JL; Palmer E; Terrill B, 2024, 'GeneEQUAL Schools: Health and genetic health literacy education for students with intellectual disabilities: Teachers' and students' experiences and perspectives', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1225 - 1225, 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

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

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