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E

Elizabeth E. Palmer

sydney children’s hospitals network

47H指数
193论文数
6.3K被引数
收录论文 73
发表时间
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Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders
errGenetics in Medicine
IF6.2
err2026-05-27
err0
errOAAI
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
err分享
err收藏
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityKCNQ2新生儿癫痫：及时诊断和治疗的影响，以及结局严重程度的早期预测因素
errEpilepsia Open
IF2.9
err2026-05-04
err0
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
err分享
err收藏
“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education“决定权在我，要培养好奇心”：智力障碍学生在遗传学和健康教育方面的认知与经历
errEuropean Journal of Human Genetics
IF4.6
err2026-02-23
err0
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
err分享
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Connect, pause and reflect: Multidisciplinary clinicians' shared challenges and sustaining strategies caring for children with Severe Neurological Impairment连接、暂停与反思：多学科临床医生在照护严重神经损伤儿童方面的共同挑战与可持续策略
errEuropean Journal of Paediatric Neurology
IF2.3
err2025-11-01
err0
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“仅仅意识到我并不孤单……这本身就是深刻的”：一项针对儿童罕见癫痫患者照护者试点同伴互助心理健康项目的混合方法评估
errOrphanet Journal of Rare Diseases
IF3.5
err2025-10-23
err0
errOAAI
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
err分享
err收藏
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderSETBP1变异体位于降解基序之外，会破坏DNA结合、转录以及神经元分化能力，从而引发一种异质性神经发育障碍。
errNature Communications
IF15.7
err2025-10-10
err0
errOAAI
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
err分享
err收藏
Shared Decision-Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person-Centred, and Respectful Approaches与有智力障碍的儿童和青年进行基因检测的共享决策：包容性、以人为本和尊重性方法的考量
errJOURNAL OF PAEDIATRICS AND CHILD HEALTH
IF1.4
err2025-10-01
err0
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“所有医生都应接受该培训”：一种教育工具包的协同生产和混合方法评估，以帮助智力障碍者实现安全、高质量的遗传健康管理
errGenetics in Medicine
IF6.2
err2025-09-07
err0
errOAAI
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
err分享
err收藏
Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries
errJOURNAL OF PRIMARY CARE AND COMMUNITY HEALTH
IF2.5
err2025-01-08
err0
errOAAI
errVidic, Nada; Mcglynn, Anna; Abdi, Fatemeh; Tam, Chun Wah Michael; Crampton, Reginald Michael; Lim, Kean-Seng; Palmer, Elizabeth Emma; Taylor, Natalie; Harris-Roxas, Ben
err分享
err收藏
The effect of the biohydrogenation-induced milk fat depression in dairy cows on milk odd- and branched-chain fatty acids across multiple studies多研究中，由生物氢化诱导的奶牛乳脂下降对牛奶奇数碳和支链脂肪酸的影响
errJOURNAL OF DAIRY SCIENCE
IF4.4
err2025-01-01
err0
errOAAI
errArif, M.; Palmer, E.; Baldin, M.; Rico, D. E.; Harvatine, K. J.
err分享
err收藏
Enhanced Age-Dependent Motor Impairment in Males of Drosophila melanogaster Modeling Spinocerebellar Ataxia Type 1 Is Linked to Dysregulation of a Matrix Metalloproteinase
errBIOLOGY-BASEL
IF3.5
err2024-10-23
err0
errOAAI
errPalmer, Emma M.; Snoddy, Caleb A.; York, Peyton M.; Davis, Sydney M.; Hunter, Madelyn F.; Krishnan, Natraj
err分享
err收藏
Psychosocial experiences of clinicians providing care for children with severe neurological impairment
errDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
err2024-06-05
err1
errOAAI
errNevin, Suzanne M.; Le Marne, Fleur A.; Beavis, Erin; Macintosh, Rebecca; Palmer, Elizabeth E.; Sachdev, Rani; Nunn, Kenneth; Bye, Ann
err分享
err收藏
'High hopes for treatment': Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases
errHEALTH EXPECTATIONS
IF3.2
err2024-05-06
err2
errOAAI
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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err收藏
A balancing act: Pan-neuronal over-expression of ataxin1 in Drosophila melanogaster leads to decreased life span and subtle behavioral deficits
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2024-03-01
err0
errOAAI
errDavis, Sydney; Palmer, Emma; Rai, Aswathy; Krishnan, Natraj
err分享
err收藏
The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability需要共同教育者与智障人士共同推动包容性，以人为本和尊重共同医疗的新模式
errFRONTIERS IN PSYCHIATRY
IF3.2
err2024-02-13
err2
errOAAI
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扩展Kleefstra综合征的表型: 103个体的言语，语言和认知
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-01-30
err6
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.
err分享
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Equitable and accessible informed healthcare consent process for people with intellectual disability: a systematic literature review
errBMJ QUALITY & SAFETY
IF6.5
err2023-12-09
err11
errOAAI
errDunn, Manjekah; Strnadova, Iva; Scully, Jackie Leach; Hansen, Jennifer; Loblinzk, Julie; Sarfaraz, Skie; Molnar, Chloe; Palmer, Elizabeth Emma
err分享
err收藏
Automated reading level classification model based on improved orbital pattern
errMULTIMEDIA TOOLS AND APPLICATIONS
IF3
err2023-11-14
err0
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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err收藏
International Undiagnosed Diseases Programs (UDPs): components and outcomes
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-11-09
err5
errOAAI
errCuric, Ela; Ewans, Lisa; Pysar, Ryan; Taylan, Fulya; Botto, Lorenzo D.; Nordgren, Ann; Gahl, William; Palmer, Elizabeth Emma
err分享
err收藏
EpilepsyNet: Novel automated detection of epilepsy using transformer model with EEG signals from 121 patient population
errCOMPUTERS IN BIOLOGY AND MEDICINE
IF6.3
err2023-09-01
err25
errOAAI
errLih, Oh Shu; Jahmunah, V.; Palmer, Elizabeth Emma; Barua, Prabal D.; Dogan, Sengul; Tuncer, Turker; Garcia, Salvador; Molinari, Filippo; Acharya, U. Rajendra
err分享
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研究方向

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合作学者
合作期刊
U
U. Rajendra Acharya
H 指数: 146 · 论文数: 1.1K
I
Ingrid E. Scheffer
H 指数: 141 · 论文数: 1.0K
M
Mark A. Tarnopolsky
H 指数: 129 · 论文数: 889
W
William B. Dobyns
H 指数: 127 · 论文数: 600
W
Wendy K. Chung
H 指数: 127 · 论文数: 1.3K
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