Dr Elizabeth Palmer
Senior Lecturer

Dr Elizabeth Palmer

​​​​​UNIVERSITY OF NEW SOUTH WALES (2014-2019)

PhD conferred November 2019. Application of Massively Parallel Sequencing for the Diagnosis of Developmental and Epileptic Encephalopathies

USW nominee for CSL Florey Next Generation Award (2018); UNSW Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018); Senior Presenter prize, UNSW Paediatric Research week (2018); School of Women and Children’s Health, UNSW Junior Conjoint Award (2018

UNIVERSITY OF OXFORD, EXETER COLLEGE, UK (1995-1999)

1ST BM PRE-CLINICAL MEDICINE. 

BA HONS IN PSYCHOLOGY, PHILOSOPHY AND PHYSIOLOGY. CLASS 1.

Scholar of Exeter College, Fitzgerald Prize and Collection Prizes for academic achievements

MBBS ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL, LONDON, UK (1999-2002)

Nominee for the Gold Medal, London Medical Schools. 

Distinctions in Medicine, Surgery, Obstetrics and Gynaecology and Clinical Pharmacology and Therapeutics. Subject prizes for achievements in examinations and clinical placements. Boldero, Hart and Dawkins Prize in Paediatrics, Royal College of Paediatrics and Child Health Student Prize Winner, 2nd Philip Seth Belasco and Douglas Cree Prize in Medicine, Horace Jules Prize in Public Health, Bernard Hart Prize in Psychiatry, John Murray Prize in Pharmacology, Joint 2nd Lydell and Leopold Hudson Prize in Surgery, Joint Hetley and Atchison Clinical Prize. Certificates of Merit (1st, 2nd and 3rd Clinical Years) for overall clinical performance

FELLOW OF THE ROYAL AUSTRALASIAN COLLEGE OF PHYSICIANS (CLINICAL GENETICS)(2012)

High Distinction in Unit in Human Genetics (Macquarie University).

DIPLOMA IN TROPICAL MEDICINE AND HYGIENE, LONDON SCHOOL OF HYGIENE AND   TROPICAL MEDICINE, ROYAL COLLEGE OF PHYSICIANS, UK (2006).

The Duncan Prize for best student.

DIPLOMA FROM THE ROYAL AUSTRALIAN AND NEW ZEALAND COLLEGE OF OBSTETRICIANS AND GYNAECOLOGISTS (2005).

Award for Outstanding Achievement, DRANZCOG oral examination.

MEMBERSHIP OF THE ROYAL COLLEGE OF PAEDIATRICS AND CHILD HEALTH, UK (2005)

ASSOCIATE FELLOW OF THE HIGHER EDUCATION ACADEMY, UK (2021)

 

Medicine & Health
School of Clinical Medicine

Emma is a senior clinical lecturer and holds a research fellowship (Investigator Grant) from the NHMRC (National Health and Medical Research Council). Her work as a Clinical Geneticist, seeing families with rare genetic conditions at Sydney Children’s Hospital, informs her research, which aims to improve the patient journey for the 2 million Australians and 300 million people globally with a rare disease. This video highlights one of those projects with a NSW family.

There are over 7,000 individually rare diseases, most of which have an underlying genetic cause, and start in childhood. The recent Australian Government National Strategic Action Plan for Rare Disease highlighted shared challenges including lack of awareness of rare disease, the struggle for a timely and accurate diagnosis, limited care and support options, a lack of research and poor data collection and use. Rare diseases typically affect multiple organ systems and are challenging for health professionals to diagnose and manage independently due to their rarity and complexity, and lack of sufficient clinician education. Although each individual genetic condition is rare (defined as affecting less than 5 in 10,000 people) the collective impact on Australians health and wellbeing is substantial. Simply put rare diseases are the biggest killer of kids.  In developed countries, such as Australia, >60% of childhood deaths are of children who have an underlying rare disease. A third of all children with a rare genetic condition die before reaching their fifth birthday.

Emma’s PhD research looked at how new genetic technologies (exome and whole genome sequencing) can revolutionise the diagnosis of a group of rare diseases, the developmental and epileptic encephalopathies, which are early-onset life-threatening epilepsies. She discovered 7 new genetic conditions, and her research improved the genetic diagnosis for kids at SCHN with this group of conditions from less than 5% to over 75%.

Since her PhD she has broadened her research to not only understand how to better diagnosis all rare genetic conditions, but also how to improve the whole journey for children with rare diseases and their parents, and revolutionise care to that which is equitable, evidence-based and accessible for all. She is a leader in clinical undiagnosed disease programs in NSW, nationally and internationally (GeneAdd, UDNAus- the Undiagnosed Disease Network Australia, and UDNI – the Undiagnosed Disease Network International). She leads a national government funded program called RArEST (Rare Disease Education Support and Training) aiming to support clinicians across Australia better diagnose and support children and families with rare diseases. She also leads an inclusive research group GeneEQUAL which has taken an innovative approach to improving accessibility of genetic testing and care for people with intellectual disability, by co-designing accessible resources in partnership with people with intellectual disability. At Sydney Children’s Hospitals Network she has helped develop the program Gene2Care which aims to put every child with a rare disease in the best possible position for a rapid genetic diagnosis and access to best support and care. She also leads a hospital-based research program for rare neurogenetic conditions at SCHN called CoGENES and co-leads a national genetic epilepsy program called the DEER program.

She also is passionate about global health care and is an advisor on a World Health Organization taskforce to strengthen health services internationally to provide rare disease care. She co-leads the Undiagnosed Disease Network International Diagnostic Working Group, which supports clinicians in developing countries to help their patients access genetic diagnosis and provides educational support to those clinicians. She has authored over 85 peer-reviewed medical publications, which have been cited over 1,200 times in the global medical literature.

 

Phone
93825583
Location
Room 810, Level 8, The Bright Alliance Building, UNSW SYDNEY NSW 2052 AUSTRALIA
  • Book Chapters | 2020
    2020, 'Potassium Channel Mutations in Epilepsy', in Bhattacharjee A (ed.), The Oxford Handbook of Neuronal Ion Channels, Oxford University Press, Oxford, UK, http://dx.doi.org/10.1093/oxfordhb/9780190669164.013.13
  • Journal articles | 2023
    2023, 'Automated accurate detection of depression using twin Pascal's triangles lattice pattern with EEG Signals', Knowledge-Based Systems, 260, pp. 110190 - 110190, http://dx.doi.org/10.1016/j.knosys.2022.110190
    Journal articles | 2023
    2023, 'CCPNet136: automated detection of schizophrenia using carbon chain pattern and iterative TQWT technique with EEG signals', Physiological Measurement, 44, http://dx.doi.org/10.1088/1361-6579/acb03c
    Journal articles | 2023
    2023, 'Epilepsy detection in 121 patient populations using hypercube pattern from EEG signals', Information Fusion, 96, pp. 252 - 268, http://dx.doi.org/10.1016/j.inffus.2023.03.022
    Journal articles | 2023
    2023, 'ExHiF: Alzheimer's disease detection using exemplar histogram-based features with CT and MR images', Medical Engineering and Physics, 115, pp. 103971 - 103971, http://dx.doi.org/10.1016/j.medengphy.2023.103971
    Journal articles | 2023
    2023, 'Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice', Developmental Medicine and Child Neurology, 65, pp. 50 - 57, http://dx.doi.org/10.1111/dmcn.15308
    Journal articles | 2023
    2023, 'Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition', Molecular Psychiatry, 28, pp. 668 - 697, http://dx.doi.org/10.1038/s41380-022-01852-9
    Journal articles | 2023
    2023, 'Learning to make a difference for chILD: Value creation through network collaboration and team science', Pediatric Pulmonology, http://dx.doi.org/10.1002/ppul.26377
    Journal articles | 2023
    2023, 'Novel favipiravir pattern-based learning model for automated detection of specific language impairment disorder using vowels', Neural Computing and Applications, 35, pp. 6065 - 6077, http://dx.doi.org/10.1007/s00521-022-07999-4
    Journal articles | 2023
    2023, 'PatchResNet: Multiple Patch Division–Based Deep Feature Fusion Framework for Brain Tumor Classification Using MRI Images', Journal of Digital Imaging, http://dx.doi.org/10.1007/s10278-023-00789-x
    Journal articles | 2023
    2023, 'Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease', Pediatric Blood and Cancer, http://dx.doi.org/10.1002/pbc.30394
    Journal articles | 2023
    2023, 'Teachers’ Educational Experiences and Preparedness in Teaching Students with Autism', Asia-Pacific Education Researcher, http://dx.doi.org/10.1007/s40299-022-00709-7
    Journal articles | 2023
    2023, '“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare', European Journal of Human Genetics, http://dx.doi.org/10.1038/s41431-023-01282-3
    Journal articles | 2022
    2022, 'Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol', BMJ Open, 12, pp. e063249, http://dx.doi.org/10.1136/bmjopen-2022-063249
    Journal articles | 2022
    2022, 'Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor', Neuropharmacology, 221, http://dx.doi.org/10.1016/j.neuropharm.2022.109295
    Journal articles | 2022
    2022, 'Artificial Intelligence Enabled Personalised Assistive Tools to Enhance Education of Children with Neurodevelopmental Disorders—A Review', International Journal of Environmental Research and Public Health, 19, http://dx.doi.org/10.3390/ijerph19031192
    Journal articles | 2022
    2022, 'Artificial intelligence assisted tools for the detection of anxiety and depression leading to suicidal ideation in adolescents: a review', Cognitive Neurodynamics, http://dx.doi.org/10.1007/s11571-022-09904-0
    Journal articles | 2022
    2022, 'Automated detection of ADHD: Current trends and future perspective', Computers in Biology and Medicine, 146, http://dx.doi.org/10.1016/j.compbiomed.2022.105525
    Journal articles | 2022
    2022, 'Automated detection of pain levels using deep feature extraction from shutter blinds-based dynamic-sized horizontal patches with facial images', Scientific Reports, 12, http://dx.doi.org/10.1038/s41598-022-21380-4
    Journal articles | 2022
    2022, 'Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons', Neurobiology of Disease, 163, http://dx.doi.org/10.1016/j.nbd.2021.105587
    Journal articles | 2022
    2022, 'Co-design, implementation, and evaluation of plain language genomic test reports', npj Genomic Medicine, 7, pp. 61, http://dx.doi.org/10.1038/s41525-022-00332-x
    Journal articles | 2022
    2022, 'Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics, 30, pp. 258 - 259, http://dx.doi.org/10.1038/s41431-021-01007-4
    Journal articles | 2022
    2022, 'EPSPatNet86: Eight-pointed star pattern learning network for detection ADHD disorder using EEG signals', Physiological Measurement, 43, http://dx.doi.org/10.1088/1361-6579/ac59dc
    Journal articles | 2022
    2022, 'Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies', PEC Innovation, 1, pp. 100014 - 100014, http://dx.doi.org/10.1016/j.pecinn.2021.100014
    Journal articles | 2022
    2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty', Journal of Paediatrics and Child Health, 58, pp. 1718 - 1721, http://dx.doi.org/10.1111/jpc.16165
    Journal articles | 2022
    2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty', Journal of Paediatrics and Child Health, 58, pp. 1722 - 1725, http://dx.doi.org/10.1111/jpc.16202
    Journal articles | 2022
    2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope', Journal of Paediatrics and Child Health, 58, pp. 1726 - 1728, http://dx.doi.org/10.1111/jpc.16187
    Journal articles | 2022
    2022, 'Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2', Movement Disorders Clinical Practice, 9, pp. S32 - S35, http://dx.doi.org/10.1002/mdc3.13538
    Journal articles | 2022
    2022, 'Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood', Neurology, 99, pp. E221 - E233, http://dx.doi.org/10.1212/WNL.0000000000200715
    Journal articles | 2022
    2022, 'Novel nested patch-based feature extraction model for automated Parkinson's Disease symptom classification using MRI images', Computer Methods and Programs in Biomedicine, 224, http://dx.doi.org/10.1016/j.cmpb.2022.107030
    Journal articles | 2022
    2022, 'OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum', Journal of Medical Genetics, http://dx.doi.org/10.1136/jmg-2022-108678
    Journal articles | 2022
    2022, 'Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy', European Journal of Paediatric Neurology, 37, pp. 129 - 138, http://dx.doi.org/10.1016/j.ejpn.2022.01.022
    Journal articles | 2022
    2022, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 64, pp. 95 - 104, http://dx.doi.org/10.1111/dmcn.14971
    Journal articles | 2022
    2022, 'Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning', Journal of Child Health Care, 26, pp. 581 - 596, http://dx.doi.org/10.1177/13674935211033466
    Journal articles | 2022
    2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
    Journal articles | 2022
    2022, 'TMP19: A Novel Ternary Motif Pattern-Based ADHD Detection Model Using EEG Signals', Diagnostics, 12, http://dx.doi.org/10.3390/diagnostics12102544
    Journal articles | 2022
    2022, 'The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review', Orphanet Journal of Rare Diseases, 17, http://dx.doi.org/10.1186/s13023-022-02317-6
    Journal articles | 2022
    2022, 'The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review', Genetics in Medicine, 24, pp. 535 - 548, http://dx.doi.org/10.1016/j.gim.2021.11.013
    Journal articles | 2022
    2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30, pp. 1121 - 1131, http://dx.doi.org/10.1038/s41431-022-01162-2
    Journal articles | 2022
    2022, '‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics', Health Expectations, 25, pp. 3175 - 3191, http://dx.doi.org/10.1111/hex.13625
    Journal articles | 2021
    2021, 'A review on computer aided diagnosis of acute brain stroke', Sensors, 21, http://dx.doi.org/10.3390/s21248507
    Journal articles | 2021
    2021, 'ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria', Brain, 144, pp. 1435 - 1450, http://dx.doi.org/10.1093/brain/awab052
    Journal articles | 2021
    2021, 'Application of deep learning models for automated identification of parkinson’s disease: A review (2011–2021)', Sensors, 21, http://dx.doi.org/10.3390/s21217034
    Journal articles | 2021
    2021, 'Automated ASD detection using hybrid deep lightweight features extracted from EEG signals.', Comput Biol Med, 134, pp. 104548, http://dx.doi.org/10.1016/j.compbiomed.2021.104548
    Journal articles | 2021
    2021, 'CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum', Clinical Genetics, 100, pp. 468 - 477, http://dx.doi.org/10.1111/cge.14022
    Journal articles | 2021
    2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2021
    2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207
    Journal articles | 2021
    2021, 'Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins', Clinical Genetics, 100, pp. 607 - 614, http://dx.doi.org/10.1111/cge.14033
    Journal articles | 2021
    2021, 'Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy', Epilepsy and Behavior, 121, pp. 108022, http://dx.doi.org/10.1016/j.yebeh.2021.108022
    Journal articles | 2021
    2021, 'Gaborpdnet: Gabor transformation and deep neural network for parkinson’s disease detection using eeg signals', Electronics (Switzerland), 10, pp. 1740 - 1740, http://dx.doi.org/10.3390/electronics10141740
    Journal articles | 2021
    2021, 'Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies', Neurotherapeutics, 18, pp. 1432 - 1444, http://dx.doi.org/10.1007/s13311-021-01133-3
    Journal articles | 2021
    2021, 'PIGG variant pathogenicity assessment reveals characteristic features within 19 families', Genetics in Medicine, 23, pp. 1873 - 1881, http://dx.doi.org/10.1038/s41436-021-01215-9
    Journal articles | 2021
    2021, 'Quantitative neurogenetics: Applications in understanding disease', Biochemical Society Transactions, 49, pp. 1621 - 1631, http://dx.doi.org/10.1042/BST20200732
    Journal articles | 2020
    2020, '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, 11, http://dx.doi.org/10.1038/s41467-020-19289-5
    Journal articles | 2020
    2020, 'Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor', Frontiers in Molecular Neuroscience, 13, pp. 12, http://dx.doi.org/10.3389/fnmol.2020.00012
    Journal articles | 2020
    2020, 'Intracellular CLC Transporters - From Kidney Stones to Intellectual Disability', BIOPHYSICAL JOURNAL, 118, pp. 24A - 24A, http://dx.doi.org/10.1016/j.bpj.2019.11.313
    Journal articles | 2020
    2020, 'Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders', Nature Communications, 11, http://dx.doi.org/10.1038/s41467-020-18723-y
    Journal articles | 2020
    2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)', HUMAN MUTATION, 41, pp. 1075 - 1075, http://dx.doi.org/10.1002/humu.24003
    Journal articles | 2020
    2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity', Human Mutation, 41, pp. 449 - 464, http://dx.doi.org/10.1002/humu.23936
    Journal articles | 2020
    2020, 'Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid', Journal of Genetic Counseling, 29, pp. 668 - 677, http://dx.doi.org/10.1002/jgc4.1259
    Journal articles | 2020
    2020, '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, 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005
    Journal articles | 2020
    2020, 'The information needs of parents of children with early-onset epilepsy: A systematic review', Epilepsy and Behavior, 112, pp. 107382 - 107382, http://dx.doi.org/10.1016/j.yebeh.2020.107382
    Journal articles | 2019
    2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
    Journal articles | 2019
    2019, 'De novo and biallelic DEAF1 variants cause a phenotypic spectrum', Genetics in Medicine, 21, pp. 2059 - 2069, http://dx.doi.org/10.1038/s41436-019-0473-6
    Journal articles | 2019
    2019, 'STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?', Neurology, 93, pp. 114 - 123, http://dx.doi.org/10.1212/WNL.0000000000007786
    Journal articles | 2019
    2019, '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, 20, http://dx.doi.org/10.3390/ijms20163907
    Journal articles | 2019
    2019, 'Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature', Genetics in Medicine, 21, pp. 2036 - 2042, http://dx.doi.org/10.1038/s41436-019-0454-9
    Journal articles | 2018
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GM S; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BB A; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HA F; Meng L; Lyon GJ, 2018, 'Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies', American Journal of Human Genetics, 102, pp. 985 - 994, http://dx.doi.org/10.1016/j.ajhg.2018.03.004
    Journal articles | 2018
    Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
    Journal articles | 2018
    Kumar KR; Wali G; Davis RL; Mallawaarachchi AC; Palmer EE; Gayevskiy V; Minoche AE; Veivers D; Dinger ME; Mackay-Sim A; Cowley MJ; Sue CM, 2018, 'Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms', Molecular Genetics and Metabolism Reports, 16, pp. 46 - 51, http://dx.doi.org/10.1016/j.ymgmr.2018.07.003
    Journal articles | 2018
    Kumar R; Gardner A; Homan CC; Douglas E; Mefford H; Wieczorek D; Lüdecke HJ; Stark Z; Sadedin S; Nowak CB; Douglas J; Parsons G; Mark P; Loidi L; Herman GE; Mihalic Mosher T; Gillespie MK; Brady L; Tarnopolsky M; Madrigal I; Eiris J; Domènech Salgado L; Rabionet R; Strom TM; Ishihara N; Inagaki H; Kurahashi H; Dudding-Byth T; Palmer EE; Field M; Gecz J, 2018, 'Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery', Human Mutation, 39, pp. 1126 - 1138, http://dx.doi.org/10.1002/humu.23557
    Journal articles | 2018
    Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2018
    Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; Van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; Study DD D; Cobben JM; Duijkers FA M; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM, 2018, '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', Molecular Psychiatry, 23, pp. 222 - 230, http://dx.doi.org/10.1038/mp.2016.135
    Journal articles | 2017
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
    Journal articles | 2017
    McKay V; Efron D; Palmer EE; White SM; Pearson C; Danchin M, 2017, 'Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing', Journal of Paediatrics and Child Health, 53, pp. 650 - 656, http://dx.doi.org/10.1111/jpc.13523
    Journal articles | 2017
    Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken LD; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J, 2017, 'A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations', American Journal of Human Genetics, 101, pp. 995 - 1005, http://dx.doi.org/10.1016/j.ajhg.2017.10.009
    Journal articles | 2017
    Von Spiczak S; Helbig KL; Shinde DN; Huether R; Pendziwiat M; Lourenço C; Nunes ME; Sarco DP; Kaplan RA; Dlugos DJ; Kirsch H; Slavotinek A; Cilio MR; Cervenka MC; Cohen JS; McClellan R; Fatemi A; Yuen A; Sagawa Y; Littlejohn R; McLean SD; Hernandez-Hernandez L; Maher B; Møller RS; Palmer E; Lawson JA; Campbell CA; Joshi CN; Kolbe DL; Hollingsworth G; Neubauer BA; Muhle H; Stephani U; Scheffer IE; Pena SD J; Sisodiya SM; Helbig I, 2017, 'DNM1 encephalopathy', Neurology, 89, pp. 385 - 394, http://dx.doi.org/10.1212/WNL.0000000000004152
    Journal articles | 2017
    Zambonin JL; Bellomo A; Ben-Pazi H; Everman DB; Frazer LM; Geraghty MT; Harper AD; Jones JR; Kamien B; Kernohan K; Koenig MK; Lines M; Palmer EE; Richardson R; Segel R; Tarnopolsky M; Vanstone JR; Gibbons M; Collins A; Fogel BL; Dudding-Byth T; Boycott KM, 2017, 'Spinocerebellar ataxia type 29 due to mutations in ITPR1: A case series and review of this emerging congenital ataxia', Orphanet Journal of Rare Diseases, 12, http://dx.doi.org/10.1186/s13023-017-0672-7
    Journal articles | 2017
    2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922
    Journal articles | 2016
    Palmer EE; Jarrett KE; Sachdev RK; Zahrani FA; Hashem MO; Ibrahim N; Sampaio H; Kandula T; Macintosh R; Gupta R; Conlon DM; Billheimer JT; Rader DJ; Funato K; Walkey CJ; Lee CS; Loo C; Brammah S; Elakis G; Zhu Y; Buckley M; Kirk EP; Bye A; Alkuraya FS; Roscioli T; Lagor WR, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157
    Journal articles | 2016
    Palmer EE, 2016, 'Dissecting the clinical outcome and cause of abnormalities of the corpus callosum', Developmental Medicine and Child Neurology, 58, pp. 430 - 431, http://dx.doi.org/10.1111/dmcn.13079
    Journal articles | 2016
    Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C, 2016, '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, 53, pp. 820 - 827, http://dx.doi.org/10.1136/jmedgenet-2016-103880
    Journal articles | 2016
    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; Geneviève 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', Epilepsia, 57, pp. 1858 - 1869, http://dx.doi.org/10.1111/epi.13560
    Journal articles | 2016
    2016, 'New insights into Brunner syndrome and potential for targeted therapy', Clinical Genetics, 89, pp. 120 - 127, http://dx.doi.org/10.1111/cge.12589
    Journal articles | 2015
    Kumar R; Corbett MA; Van Bon BW M; Woenig JA; Weir L; Douglas E; Friend KL; Gardner A; Shaw M; Jolly LA; Tan C; Hunter MF; Hackett A; Field M; Palmer EE; Leffler M; Rogers C; Boyle J; Bienek M; Jensen C; Van Buggenhout G; Van Esch H; Hoffmann K; Raynaud M; Zhao H; Reed R; Hu H; Haas SA; Haan E; Kalscheuer VM; Gecz J, 2015, 'THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability', American Journal of Human Genetics, 97, pp. 302 - 310, http://dx.doi.org/10.1016/j.ajhg.2015.05.021
    Journal articles | 2015
    2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
    Journal articles | 2014
    Palmer EE; Mowat D, 2014, 'Agenesis of the corpus callosum: A clinical approach to diagnosis', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 166, pp. 184 - 197, http://dx.doi.org/10.1002/ajmg.c.31405
    Journal articles | 2014
    2014, 'Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability', American Journal of Medical Genetics, Part A, 164, pp. 377 - 385, http://dx.doi.org/10.1002/ajmg.a.36279
    Journal articles | 2012
    2012, 'Chromosome microarray in Australia: A guide for paediatricians', Journal of Paediatrics and Child Health, 48, pp. E59 - E67, http://dx.doi.org/10.1111/j.1440-1754.2011.02081.x
  • Preprints | 2023
    2023, 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
    Conference Abstracts | 2022
    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
    Preprints | 2022
    2022, Co-design, implementation, and evaluation of plain language genomic test reports, , http://dx.doi.org/10.21203/rs.3.rs-1721168/v1
    Preprints | 2022
    2022, 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
    Preprints | 2022
    2022, “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
    Conference Papers | 2020
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000598482603418&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2020
    2020, 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
    Conference Abstracts | 2019
    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], Vol. 277, pp. 1781 - 1782, presented at European Society of Human Genetics
    Conference Abstracts | 2019
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313903088&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Other | 2019
    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)), , http://dx.doi.org/10.1016/j.ajhg.2019.03.016
    Conference Abstracts | 2018
    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, NATURE PUBLISHING GROUP, 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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101215&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    2018, 'Different mutations in DEAF1 lead to clinically distinct dominant and recessive forms of intellectual disability', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, 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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101223&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    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
    Conference Papers | 2016
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000425754400053&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

2022: NHMRC GeneEQUAL CIA ($1.6 million)

2022: MRFF funding Genomics Health Futures Misison Grant CI $3 million

2021: NMHRC Investigator Grant Gene2Care:  a comprehensive program of research to revolutionise care for children with rare genetic conditions $390,444 CIA

2021: NHMRC CRE Natural history studies for Developmental and Epileptic Encephalopathies (CIC)

2021: Department of Health Funding “RArEST” Rare disease Awareness, Education, Support and Training ($1.9 million) CIA

2021: Ministry of Health Funding “GeneEQUAL: genomic education for people with intellectual disability ($120,000) CIA

2021: MRFF funding. Undiagnosed Disease Network Australia. (3 million) CI

2021: MRFF funding: The Australian Functional Genomics Network (6 million) CI

2020: Philanthropic Funding “GeneCOMPASS: a Knowledge-to-Action program linking families and clinicians with world-class neurogenetic personalised medicine information. ($330,000) CIA

2020: Australian Epilepsy Research Fund “Preparing Australia for Precision Medicine in the Developmental and Epileptic Encephalopathies” ($686,537) CIC

2017: SPHERE funding for CoGENES project Officer “Improving Clinical Care and Support for Children with Severe Early-Onset Epilepsies and Their Families.” ($17,000). CIA

2016: Office of Health and Medical Research Grant. Drug resistant childhood onset epilepsy with intellectual disability: leveraging genomic sequencing to identify novel genes and neurodevelopmental pathways and determine optimal diagnostic protocols: “Drug resistant childhood onset epilepsy with intellectual disability: leveraging genomic sequencing to identify novel genes and neurodevelopmental pathways and determine optimal diagnostic protocols” ($180,000). CIC

2016: NHMRC Postgraduate PhD Scholarship Grant Supervisors Edwin Kirk and Annie Bye. “Application of Next Generation Sequencing for the Diagnosis of Epileptic Encephalopathy – the science, the costings and the impact.” ($127,000) CIA

Recent awards include: 

  • UNSW nominee for CSL Florey Next Generation Award (2018)
  • UNSW Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018)
  • School of Women and Children’s Health, UNSW Junior Conjoint Award (2018)
  • Senior Presenter prize, UNSW Paediatric Research week (2008)

Emma leads the following collaborative research programs:

1. Gene2Care, an innovative rare genetic disease program at SCHN, to ensure all families with genetic conditions have the option of participating in research and being linked to undiagnosed disease pathways and clinical trials.

2. GeneEQUAL a co-design project to improve equity and accessibility of genomic testing and counselling to people with intellectual disabilities. Find out more at www.GeneEQUAL.com

3. CoGENES an interdisciplinary research team improving diagnoses, support and treatments for children with rare genetic epilepsies and their families, and

4. RArEST a collaborative project to improve awareness, education, training and support for rare disease across Australia.

She is also a chief investigator on several national and international rare disease programs including the newly launched national undiagnosed disease program UDN-Aus, the Australian Functional Genomic Network and the Diagnostic Working Group of the Undiagnosed Disease Network International.

She strives to ensure that the patient and family voice is always central to all her research. 

Emma is a moderator for 8 genetic causes of ID/ASD on the Human Disease Gene and GenIDA Websites

http://humandiseasegenes.nl  https://genida.unistra.fr/  (SCN2A, ZSWIM6, THOC2, ATN1, IQSEC2, PUM1, PCHDH19, KCNT2).

Emma is on the following patient advocacy/ rare disease scientific advisory boards:

  • CureCLCN4
  • SCN2A Australia
  • Rare Voices Australia
  • SATB2 Australia 

COGENES puts the family first in all our research and we are informed by our consumer (family) reference group. 

  • We asked parents of children with genetic epilepsy about their information and support needs. this informed the co-design of two sets of resources:
    •  Information for families on genetic testing
    • Finding a Way: a set of positive psychology resources 
    • and our current pilot of an information service GeneCOMPASS
  • We run Genetic Epilepsy Family Days to keep families up to date with the latest research and clinical findings
  • We participate in other family days, for example for Genetic Epilepsy Team Australia and SCN2A, CureCLCN4 and Kleefstra syndrome groups
  • We have also recorded a range of podcasts and other media: for example 

 

My Research Supervision

2023: 1 PhD Student. 2 Masters students UNSW. 3 Masters students UTS. 2 Honours students UNSW

Looking to recruit 1 PhD student with scholarship for developmental and epileptic encephalopathy research. 

Previous supervision. 

2022: Supervisor 1 Honours Student UNSW (high distinction). Primary supervisor 2 Masters students..

2019-2021: Co-Supervisor PhD Student, Suzanne Nevin, University of New South Wales. “Co-development of education and support resources for families with severe early-onset epilepsy”.

2021: Co-supervisor for ILP student, UNSW

2021: Co-supervisor for ILP student, UNSW

2021: Co-supervisor for Honours student, UNSW

2020: Primary Supervisor for Master’s Student: Ella Ward, University of Technology Masters of Genetic Counselling Course. “Co-design of a Family Day for Genetic Epilepsy”

2020: Primary Supervisor for Master’s Student: Jordan Wood, University of Technology Masters of Genetic Counselling Course. “Scoping Review of Individual and Parental Preferences for a Personalised Medicine Program for Rare Paediatric Genetic Disorders”

My Teaching

Lecturer for UNSW Medicine (Phase 1 and Phase 3); University of Sydney Masters of Genomic Medicine; RACP Fellowship for Clinical Genetics; University of Sydney Masters of Genetic Counselling. Lead Convenor UNSW Short Course Genomics for the Practicing Clinician