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Scopus Author ID: 56714951200
Loop profile: 397631
Scopus Author ID: 55990084100

Keywords

clinical genetics

Countries

Australia

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Employment (2)

Sydney Children's Hospital Network: Sydney, NSW, AU

2020-05-20 to present | Clinical Geneticist (Centre for Clinical Genetics)
Employment
Source: Self-asserted source
Elizabeth Palmer

University of New South Wales: Sydney, NSW, AU

2019-09-01 to present | Senior Clinical Lecturer (Discipline of Paediatrics and Child Health, Faculty of Medicine and Health )
Employment
Source: Self-asserted source
Elizabeth Palmer

Education and qualifications (3)

University of New South Wales - Randwick Campus: Randwick, NSW, AU

2014 to 2019-11-20 | PhD (School of Women and Children's Health)
Education
Source: Self-asserted source
Elizabeth Palmer

University College London Medical School: London, London, GB

2012 | MBBS
Education
Source: Self-asserted source
Elizabeth Palmer

University of Oxford: Oxford, Oxfordshire, GB

2009 | BA (Hons I)
Education
Source: Self-asserted source
Elizabeth Palmer

Funding (1)

Application of Next Generation Sequencing for the Diagnosis of Epileptic Encephalopathy: the science, the costings and the impact.

Source: Self-asserted source
Elizabeth Palmer via DimensionsWizard

Works (42)

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

Neurology
2021 | Journal article
DOI: 10.1212/WNL.0000000000011655
EID:

2-s2.0-85103684046

Part of ISSN: 1526632X
Contributors: Palmer, E.E.; Sachdev, R.; Macintosh, R.; Melo, U.S.; Mundlos, S.; Righetti, S.; Kandula, T.; Minoche, A.E.; Puttick, C.; Gayevskiy, V. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

Human Mutation
2021 | Journal article
DOI: 10.1002/humu.24207
EID:

2-s2.0-85105074051

Part of ISSN: 10981004 10597794
Contributors: Field, M.J.; Kumar, R.; Hackett, A.; Kayumi, S.; Shoubridge, C.A.; Ewans, L.J.; Ivancevic, A.M.; Dudding-Byth, T.; Carroll, R.; Kroes, T. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy

Epilepsy and Behavior
2021 | Journal article
DOI: 10.1016/j.yebeh.2021.108022
EID:

2-s2.0-85106487271

Part of ISSN: 15255069 15255050
Contributors: McKeon, G.; Palmer, E.E.; Macintosh, R.; Nevin, S.M.; Wheatley, L.; Rosenbaum, S.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

GaborPDNet: Gabor Transformation and Deep Neural Network for Parkinson’s Disease Detection Using EEG Signals

Electronics
2021-07 | Journal article | Author
DOI: 10.3390/electronics10141740
Contributors: huiwen loh; Chui Ping Ooi; Elizabeth Palmer; Prabal Datta Barua; Sengul Dogan; Türker TUNCER; Mehmet Baygin; U Rajendra Acharya
Source: check_circle
Multidisciplinary Digital Publishing Institute

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain : a journal of neurology
2021-06-01 | Journal article
DOI: 10.1093/brain/awab052
PMID: 33880529
Contributors: Annalisa Vetro; Nielsen HN; Holm R; Hevner RF; Parrini E; Zoe Powis; Rikke S Møller; Bellan C; Simonati A; Gaetan Lesca et al.
Source: Self-asserted source
Elizabeth Palmer

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Nature Communications
2020 | Journal article
DOI: 10.1038/s41467-020-19289-5
EID:

2-s2.0-85093103636

Part of ISSN: 20411723
Contributors: Wang, T.; Hoekzema, K.; Vecchio, D.; Wu, H.; Sulovari, A.; Coe, B.P.; Gillentine, M.A.; Wilfert, A.B.; Perez-Jurado, L.A.; Kvarnung, M. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Frontiers in Molecular Neuroscience
2020 | Journal article
DOI: 10.3389/fnmol.2020.00012
EID:

2-s2.0-85083628262

Part of ISSN: 16625099
Contributors: Kumar, R.; Palmer, E.; Gardner, A.E.; Carroll, R.; Banka, S.; Abdelhadi, O.; Donnai, D.; Elgersma, Y.; Curry, C.J.; Gardham, A. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications
2020 | Journal article
DOI: 10.1038/s41467-020-18723-y
EID:

2-s2.0-85091936481

Part of ISSN: 20411723
Contributors: Wang, T.; Hoekzema, K.; Vecchio, D.; Wu, H.; Sulovari, A.; Coe, B.P.; Gillentine, M.A.; Wilfert, A.B.; Perez-Jurado, L.A.; Kvarnung, M. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier
grade
Preferred source (of 2)‎

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Human Mutation
2020 | Journal article
DOI: 10.1002/humu.23936
EID:

2-s2.0-85075484672

Part of ISSN: 10981004 10597794
Contributors: Cheng, H.; Capponi, S.; Wakeling, E.; Marchi, E.; Li, Q.; Zhao, M.; Weng, C.; Stefan, P.G.; Ahlfors, H.; Kleyner, R. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid

Journal of Genetic Counseling
2020 | Journal article
DOI: 10.1002/jgc4.1259
EID:

2-s2.0-85082947426

Part of ISSN: 15733599 10597700
Contributors: Kotwal, H.; Fleming, J.; Barlow-Stewart, K.; Boyle, J.; Silberbauer, L.; Leffler, M.; Murray, L.; Palmer, E.E.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

American Journal of Human Genetics
2020 | Journal article
DOI: 10.1016/j.ajhg.2020.10.005
EID:

2-s2.0-85096616871

Part of ISSN: 15376605 00029297
Contributors: Palmer, E.E.; Carroll, R.; Shaw, M.; Kumar, R.; Minoche, A.E.; Leffler, M.; Murray, L.; Macintosh, R.; Wright, D.; Troedson, C. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

The information needs of parents of children with early-onset epilepsy: A systematic review

Epilepsy and Behavior
2020 | Journal article
DOI: 10.1016/j.yebeh.2020.107382
EID:

2-s2.0-85089654426

Part of ISSN: 15255069 15255050
Contributors: Nevin, S.M.; Wakefield, C.E.; Schilstra, C.E.; McGill, B.C.; Bye, A.; Palmer, E.E.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Genetics in Medicine
2019 | Journal article
DOI: 10.1038/s41436-019-0473-6
EID:

2-s2.0-85063615212
Contributors: Nabais Sá, M.J.; Jensik, P.J.; McGee, S.R.; Parker, M.J.; Lahiri, N.; McNeil, E.P.; Kroes, H.Y.; Hagerman, R.J.; Harrison, R.E.; Montgomery, T. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

American Journal of Human Genetics
2019 | Journal article
DOI: 10.1016/j.ajhg.2019.01.013
EID:

2-s2.0-85062276538
Contributors: Palmer, E.E.; Hong, S.; Al Zahrani, F.; Hashem, M.O.; Aleisa, F.A.; Ahmed, H.M.J.; Kandula, T.; Macintosh, R.; Minoche, A.E.; Puttick, C. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

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))

American Journal of Human Genetics
2019 | Journal article
DOI: 10.1016/j.ajhg.2019.03.016
EID:

2-s2.0-85063617481
Contributors: Palmer, E.E.; Hong, S.; Al Zahrani, F.; Hashem, M.O.; Aleisa, F.A.; Jalal Ahmed, H.M.; Kandula, T.; Macintosh, R.; Minoche, A.E.; Puttick, C. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Significantly elevated FMR1 mRNA and mosaicism for methylated premutation and full mutation alleles in two brothers with autism features referred for fragile X testing

International Journal of Molecular Sciences
2019 | Journal article
DOI: 10.3390/ijms20163907
EID:

2-s2.0-85071281520
Contributors: Field, M.; Dudding-Byth, T.; Arpone, M.; Baker, E.K.; Aliaga, S.M.; Rogers, C.; Hickerton, C.; Francis, D.; Phelan, D.G.; Palmer, E.E. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Neurology
2019 | Journal article
DOI: 10.1212/WNL.0000000000007786
EID:

2-s2.0-85069948424
Contributors: Lanoue, V.; Chai, Y.J.; Brouillet, J.Z.; Weckhuysen, S.; Palmer, E.E.; Collins, B.M.; Meunier, F.A.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Genetics in Medicine
2019 | Journal article
DOI: 10.1038/s41436-019-0454-9
EID:

2-s2.0-85061319502
Contributors: Torti, E.; Keren, B.; Palmer, E.E.; Zhu, Z.; Afenjar, A.; Anderson, I.J.; Andrews, M.V.; Atkinson, C.; Au, M.; Berry, S.A. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Cell
2018 | Journal article
DOI: 10.1016/j.cell.2018.02.006
EID:

2-s2.0-85042349801
Contributors: Gennarino, V.A.; Palmer, E.E.; McDonell, L.M.; Wang, L.; Adamski, C.J.; Koire, A.; See, L.; Chen, C.-A.; Schaaf, C.P.; Rosenfeld, J.A. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

Molecular Genetics and Metabolism Reports
2018 | Journal article
DOI: 10.1016/j.ymgmr.2018.07.003
EID:

2-s2.0-85050079590
Contributors: Kumar, K.R.; Wali, G.; Davis, R.L.; Mallawaarachchi, A.C.; Palmer, E.E.; Gayevskiy, V.; Minoche, A.E.; Veivers, D.; Dinger, M.E.; Mackay-Sim, A. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Molecular Genetics and Genomic Medicine
2018 | Journal article
DOI: 10.1002/mgg3.355
EID:

2-s2.0-85045520780
Contributors: Palmer, E.E.; Schofield, D.; Shrestha, R.; Kandula, T.; Macintosh, R.; Lawson, J.A.; Andrews, I.; Sampaio, H.; Johnson, A.M.; Farrar, M.A. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

Human Mutation
2018 | Journal article
DOI: 10.1002/humu.23557
EID:

2-s2.0-85049833042
Contributors: Kumar, R.; Gardner, A.; Homan, C.C.; Douglas, E.; Mefford, H.; Wieczorek, D.; Lüdecke, H.-J.; Stark, Z.; Sadedin, S.; Nowak, C.B. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

American Journal of Human Genetics
2018 | Journal article
DOI: 10.1016/j.ajhg.2018.03.004
EID:

2-s2.0-85045109936
Contributors: Cheng, H.; Dharmadhikari, A.V.; Varland, S.; Ma, N.; Domingo, D.; Kleyner, R.; Rope, A.F.; Yoon, M.; Stray-Pedersen, A.; Posey, J.E. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

Cell Reports
2017 | Journal article
DOI: 10.1016/j.celrep.2017.09.088
EID:

2-s2.0-85032025979
Contributors: Gururaj, S.; Palmer, E.E.; Sheehan, G.D.; Kandula, T.; Macintosh, R.; Ying, K.; Morris, P.; Tao, J.; Dias, K.-R.; Zhu, Y. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

American Journal of Human Genetics
2017 | Journal article
DOI: 10.1016/j.ajhg.2017.10.009
EID:

2-s2.0-85035800417
Contributors: Palmer, E.E.; Kumar, R.; Gordon, C.T.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing

Journal of Paediatrics and Child Health
2017 | Journal article
DOI: 10.1111/jpc.13523
EID:

2-s2.0-85021776683
Contributors: McKay, V.; Efron, D.; Palmer, E.E.; White, S.M.; Pearson, C.; Danchin, M.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

DNM1 encephalopathy

Neurology
2017 | Journal article
DOI: 10.1212/WNL.0000000000004152
EID:

2-s2.0-85025803929
Contributors: Von Spiczak, S.; Helbig, K.L.; Shinde, D.N.; Huether, R.; Pendziwiat, M.; Lourenço, C.; Nunes, M.E.; Sarco, D.P.; Kaplan, R.A.; Dlugos, D.J. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Spinocerebellar ataxia type 29 due to mutations in ITPR1: A case series and review of this emerging congenital ataxia

Orphanet Journal of Rare Diseases
2017 | Journal article
DOI: 10.1186/s13023-017-0672-7
EID:

2-s2.0-85021393600
Contributors: Zambonin, J.L.; Bellomo, A.; Ben-Pazi, H.; Everman, D.B.; Frazer, L.M.; Geraghty, M.T.; Harper, A.D.; Jones, J.R.; Kamien, B.; Kernohan, K. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Cell Reports
2017-10-24 | Journal article
PMID: 29069600
Source: Self-asserted source
Elizabeth Palmer

Genetics of Epileptic Encephalopathies

eLS
2017-03 | Book chapter
DOI: 10.1002/9780470015902.a0026922
Source: Self-asserted source
Elizabeth Palmer
grade
Preferred source (of 2)‎

Dissecting the clinical outcome and cause of abnormalities of the corpus callosum

Developmental Medicine and Child Neurology
2016 | Journal article
DOI: 10.1111/dmcn.13079
EID:

2-s2.0-84959877368
Contributors: Palmer, E.E.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Journal of Medical Genetics
2016 | Journal article
DOI: 10.1136/jmedgenet-2016-103880
EID:

2-s2.0-84978664164
Contributors: Smogavec, M.; Cleall, A.; Hoyer, J.; Lederer, D.; Nassogne, M.-C.; Palmer, E.E.; Deprez, M.; Benoit, V.; Maystadt, I.; Noakes, C. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

Human Molecular Genetics
2016 | Journal article
DOI: 10.1093/hmg/ddw157
EID:

2-s2.0-85016099769
Contributors: Palmer, E.E.; Jarrett, K.E.; Sachdev, R.K.; Zahrani, F.A.; Hashem, M.O.; Ibrahim, N.; Sampaio, H.; Kandula, T.; Macintosh, R.; Gupta, R. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

Epilepsia
2016 | Journal article
DOI: 10.1111/epi.13560
EID:

2-s2.0-84988807195
Contributors: Zerem, A.; Haginoya, K.; Lev, D.; Blumkin, L.; Kivity, S.; Linder, I.; Shoubridge, C.; Palmer, E.E.; Field, M.; Boyle, J. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

2016-08 | Journal article
DOI: 10.1038/mp.2016.135
PMID: 27550844
Contributors: Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C et al.
Source: Self-asserted source
Elizabeth Palmer via Europe PubMed Central
grade
Preferred source (of 2)‎

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

2016-06 | Journal article
PMID: 27270415
Contributors: Palmer EE; Jarrett KE; Sachdev RK; Al Zahrani F; Hashem MO; Ibrahim N; Sampaio H; Kandula T; Macintosh R; Gupta R et al.
Source: Self-asserted source
Elizabeth Palmer via Europe PubMed Central

New insights into Brunner syndrome and potential for targeted therapy.

2016-01 | Journal article
DOI: 10.1111/cge.12589
PMID: 25807999
Contributors: Palmer EE; Leffler M; Rogers C; Shaw M; Carroll R; Earl J; Cheung NW; Champion B; Hu H; Haas SA et al.
Source: Self-asserted source
Elizabeth Palmer via Europe PubMed Central
grade
Preferred source (of 2)‎

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

Molecular Genetics and Metabolism
2015 | Journal article
DOI: 10.1016/j.ymgme.2015.08.007
EID:

2-s2.0-84948716076
Contributors: Palmer, E.E.; Hayner, J.; Sachdev, R.; Cardamone, M.; Kandula, T.; Morris, P.; Dias, K.-R.; Tao, J.; Miller, D.; Zhu, Y. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

American Journal of Human Genetics
2015 | Journal article
DOI: 10.1016/j.ajhg.2015.05.021
EID:

2-s2.0-84938998258
Contributors: Kumar, R.; Corbett, M.A.; Van Bon, B.W.M.; Woenig, J.A.; Weir, L.; Douglas, E.; Friend, K.L.; Gardner, A.; Shaw, M.; Jolly, L.A. et al.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Agenesis of the corpus callosum: A clinical approach to diagnosis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
2014 | Journal article
DOI: 10.1002/ajmg.c.31405
EID:

2-s2.0-84902438904
Contributors: Palmer, E.E.; Mowat, D.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

2014-02 | Journal article
DOI: 10.1002/ajmg.a.36279
PMID: 24311194
Contributors: Palmer E; Speirs H; Taylor PJ; Mullan G; Turner G; Einfeld S; Tonge B; Mowat D
Source: Self-asserted source
Elizabeth Palmer via Europe PubMed Central
grade
Preferred source (of 2)‎

Chromosome microarray in Australia: A guide for paediatricians

Journal of Paediatrics and Child Health
2012 | Journal article
DOI: 10.1111/j.1440-1754.2011.02081.x
EID:

2-s2.0-84856845510
Contributors: Palmer, E.E.; Peters, G.B.; Mowat, D.
Source: Self-asserted source
Elizabeth Palmer via Scopus - Elsevier

Peer review (8 reviews for 6 publications/grants)

Review activity for American journal of human genetics. (1)
Review activity for European journal of human genetics (2)
Review activity for Genetics in medicine. (1)
Review activity for Molecular psychiatry. (2)
Review activity for npj genomic medicine. (1)
Review activity for The Lancet neurology. (1)
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