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Elizabeth E. Palmer

sydney children’s hospitals network

47H-index
193Paper Count
6.3KCitation Count
Published Papers 73
Publication Date
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders
err2026-05-27
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errRamy Saad; Clementina Cobolli Gigli; Pleuntje J. van der Sluijs; Jon R. Wilson; Tzung-Chien Hsieh; Vivienne P.M. McConnell; Carlos Bacino; Lynne M. Bird; Shelin Adam; Lorne Clarke; Jan M. Cobben; André Travessa; Laurence Faivre; Stense Farholt; Pernille Gregersen; Jos van Hasselt; Nayana Lahiri; Elizabeth E. Palmer; Ruth Sheffer; Jill Clayton-Smith
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KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
err2026-05-04
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errOAAI
errTrupti Jadhav; Sophie E. Bouffler; Emily Innes; Michael Fahey; Matthew Hunter; Kavitha Kothur; Sebastian Lunke; Matthew Lynch; Emma Macdonald-Laurs; Elizabeth Emma Palmer; Chirag Patel; Jason Pinner; Kate Riney; Rani Sachdev; Sarah A. Sandaradura; Ingrid E. Scheffer; Zornitza Stark; Katherine B. Howell
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“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education
err2026-02-23
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errOAAI
errJennifer Hansen; Iva Strnadová; Joanne Danker; Karen-Maia Jackaman; Julie Loblinzk Refalo OAM; Skie Sarfaraz; Jackie Leach Scully; Jackie Boyle; Bronwyn Terrill; Elizabeth Emma Palmer
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Connect, pause and reflect: Multidisciplinary clinicians' shared challenges and sustaining strategies caring for children with Severe Neurological Impairment
err2025-11-01
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PREAI
errNevin, Suzanne M.; Le Marne, Fleur A.; Kelada, Lauren; Wakefield, Claire E.; Beavis, Erin; Macintosh, Rebecca; Palmer, Elizabeth E.; McLoughlin, Rachel; Advisory, Clinequip; Sachdev, Rani; Nunn, Kenneth; Bye, Ann
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“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
err2025-10-23
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errKristine Pierce; Jack Bernard Murphy; Eden G. Robertson; Jahidur Rahman Khan; Susan Bullock; Cristol Barrett O’Loughlin; Megan Loden; Rebecca McIntosh; Erin Beavis; Natalie Roberts; Elizabeth Emma Palmer; Raghu Lingam
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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
err2025-10-10
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errMaggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
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Shared Decision-Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person-Centred, and Respectful Approaches
err2025-10-01
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errOAAI
errDunn, Manjekah; Strnadova, Iva; Tso, Michelle; Mardones, Claudia Pantoja; Boyle, Jackie; Longhurst, Erica; Refalo, Julie Loblinzk; Sarfaraz, Skie; Terrill, Bronwyn; Palmer, Elizabeth Emma
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“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
err2025-09-07
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errIva Strnadová; Manjekah Dunn; Chloe Molnar; Julie Loblinzk Refalo; Jackie Leach Scully; Joanne Danker; Michelle Tso; Tiffany Qing Lim; Yasmin Cathcart-King; Karen-Maia Jackaman; Sarah Hayes; Sierra Angelina Willow; Jackie Boyle; Jennifer Hansen; Skie Sarfaraz; Caroline Basckin; Celia Halliburton; Thulasee Sri Ganeshan; Edwina K. Middleton; Bronwyn Terrill; Elizabeth Emma Palmer
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Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries
err2025-01-08
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errVidic, Nada; Mcglynn, Anna; Abdi, Fatemeh; Tam, Chun Wah Michael; Crampton, Reginald Michael; Lim, Kean-Seng; Palmer, Elizabeth Emma; Taylor, Natalie; Harris-Roxas, Ben
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Enhanced Age-Dependent Motor Impairment in Males of Drosophila melanogaster Modeling Spinocerebellar Ataxia Type 1 Is Linked to Dysregulation of a Matrix Metalloproteinase
err2024-10-23
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errPalmer, Emma M.; Snoddy, Caleb A.; York, Peyton M.; Davis, Sydney M.; Hunter, Madelyn F.; Krishnan, Natraj
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Psychosocial experiences of clinicians providing care for children with severe neurological impairment
err2024-06-05
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errNevin, Suzanne M.; Le Marne, Fleur A.; Beavis, Erin; Macintosh, Rebecca; Palmer, Elizabeth E.; Sachdev, Rani; Nunn, Kenneth; Bye, Ann
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'High hopes for treatment': Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases
err2024-05-06
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errNguyen, Christina Q.; Kariyawasam, Didu S. T.; Ngai, Tsz Shun Jason; Nguyen, James; Alba-Concepcion, Kristine; Grattan, Sarah E.; Palmer, Elizabeth E.; Hetherington, Kate; Wakefield, Claire E.; Dale, Russell C.; Woolfenden, Sue; Mohammad, Shekeeb; Farrar, Michelle A.
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The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability
err2024-02-13
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errMolnar, Chloe; Strnadova, Iva; Dunn, Manjekah; Loblinzk, Julie; Sarfaraz, Skie; Cathcart-King, Yasmin; Tso, Michelle; Danker, Joanne; Hayes, Sarah; Willow, Sierra Angelina; Hansen, Jennifer; Lim, Tiffany Qing; Boyle, Jackie; Terrill, Bronwyn; Scully, Jackie Leach; Palmer, Elizabeth Emma
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Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
err2024-01-30
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errOAAI
errMorison, Lottie D.; Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P.; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddharth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David J.; Scheffer, Ingrid E.; Kleefstra, Tjitske; Morgan, Angela T.
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Equitable and accessible informed healthcare consent process for people with intellectual disability: a systematic literature review
err2023-12-09
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errDunn, Manjekah; Strnadova, Iva; Scully, Jackie Leach; Hansen, Jennifer; Loblinzk, Julie; Sarfaraz, Skie; Molnar, Chloe; Palmer, Elizabeth Emma
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Automated reading level classification model based on improved orbital pattern
err2023-11-14
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PREAI
errAbed, Rusul Qasim; Dikmen, Melih; Aydemir, Emrah; Barua, Prabal Datta; Dogan, Sengul; Tuncer, Turker; Palmer, Elizabeth Emma; Ciaccio, Edward J.; Acharya, U. Rajendra
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International Undiagnosed Diseases Programs (UDPs): components and outcomes
err2023-11-09
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errCuric, Ela; Ewans, Lisa; Pysar, Ryan; Taylan, Fulya; Botto, Lorenzo D.; Nordgren, Ann; Gahl, William; Palmer, Elizabeth Emma
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EpilepsyNet: Novel automated detection of epilepsy using transformer model with EEG signals from 121 patient population
err2023-09-01
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errLih, Oh Shu; Jahmunah, V.; Palmer, Elizabeth Emma; Barua, Prabal D.; Dogan, Sengul; Tuncer, Turker; Garcia, Salvador; Molinari, Filippo; Acharya, U. Rajendra
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