Dr Elizabeth Emma Palmer
Lecturer

Dr Elizabeth Emma 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
Discipline of Paediatrics

Dr (Elizabeth) Emma Palmer is a Clinical Geneticist at Sydney Children’s Hospitals Network (SCHN) and university lecturer at the University of New South Wales, in Sydney Australia. She is passionate about improving the patient journey for all with rare genetic conditions and their families. Her work aims to improve the recognition of the possibility of genetic conditions by improving clinicain education about rare diseases,  maximising the diagnostic yield of genetic tests and optimising patient care by linking families to best practice guidlines, treatments and supports. She has over 45 peer reviewed journal articles, including those describing 9 new genetic conditions.  

She 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 and

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 many 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. 

Phone
93825583
Location
Room 810, Level 8, The Bright Alliance Building, UNSW SYDNEY NSW 2052 AUSTRALIA

Publications

  • Book Chapters | 2020
    Dr Elizabeth Emma Palmer
    Palmer E, 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 | 2021
    Dr Elizabeth Emma Palmer
    McKeon G; Palmer EE; Macintosh R; Nevin SM; Wheatley L; Rosenbaum S, 2021, 'Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy', Epilepsy and Behavior, vol. 121, pp. 108022, http://dx.doi.org/10.1016/j.yebeh.2021.108022
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Kelada L; Wakefield CE; Drew D; Ooi CY; Palmer EE; Bye A; De Marchi S; Jaffe A; Kennedy S, 2021, 'Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning', Journal of Child Health Care, pp. 13674935211033466, http://dx.doi.org/10.1177/13674935211033466
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Salian S; Scala M; Nguyen TTM; Severino M; Accogli A; Amadori E; Torella A; Pinelli M; Hudson B; Boothe M; Hurst A; Ben-Omran T; Larsen MJ; Fagerberg CR; Sperling L; Miceikaite I; Herissant L; Doco-Fenzy M; Jennesson M; Nigro V; Striano P; Minetti C; Sachdev RK; Palmer EE; Capra V; Campeau PM, 2021, 'Epileptic encephalopathy caused by ARV1 deficiency: refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.', Clin Genet, http://dx.doi.org/10.1111/cge.14033
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Tremblay-Laganière C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; Christoforou M; Sultan T; Ladda RL; McLaughlin HM; Truty R; Mahida S; Cohen JS; Baranano K; Ismail FY; Patel MS; Lehman A; Edmondson AC; Nagy A; Walker MA; Mercimek-Andrews S; Maki Y; Sachdev R; Macintosh R; Palmer EE; Mancini GMS; Barakat TS; Steinfeld R; Rüsch CT; Stettner GM; Wagner M; Wortmann SB; Kini U; Brady AF; Stals KL; Ismayilova N; Ellard S; Bernardo D; Nugent K; McLean SD; Antonarakis SE; Houlden H; Kinoshita T; Campeau PM; Murakami Y, 2021, 'PIGG variant pathogenicity assessment reveals characteristic features within 19 families', Genetics in Medicine, http://dx.doi.org/10.1038/s41436-021-01215-9
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Nevin SM; Wakefield CE; Barlow-Stewart K; Mcgill BC; Bye A; Palmer EE, 2021, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, http://dx.doi.org/10.1111/dmcn.14971
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Loh HW; Ooi CP; Palmer E; Barua PD; Dogan S; Tuncer T; Baygin M; Rajendra Acharya U, 2021, 'Gaborpdnet: Gabor transformation and deep neural network for parkinson’s disease detection using eeg signals', Electronics (Switzerland), vol. 10, pp. 1740 - 1740, http://dx.doi.org/10.3390/electronics10141740
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Palmer EE; Whitton C; Hashem MO; Clark RD; Ramanathan S; Starr LJ; Velasco D; De Dios JK; Singh E; Cormier-Daire V; Chopra M; Rodan LH; Nellaker C; Lakhani S; Mallack EJ; Panzer K; Sidhu A; Wentzensen IM; Lacombe D; Michaud V; Alkuraya FS, 2021, 'CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum', Clinical Genetics, http://dx.doi.org/10.1111/cge.14022
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R; Sanlaville D; Sachdev R; Andrews I; Mari F; Cavalli A; Barba C; De Maria B; Garani G; Lemke JR; Mastrangelo M; Tam E; Donner E; Branson H; Monteiro FP; Kok F; Howell KB; Leech S; Mefford H; Muir A, 2021, 'ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria', Brain, vol. 144, pp. 1435 - 1450, http://dx.doi.org/10.1093/brain/awab052
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Afrasiabi A; Keane JT; Heng JI-T; Palmer EE; Lovell NH; Alinejad-Rokny H, 2021, 'Quantitative neurogenetics: applications in understanding disease.', Biochem Soc Trans, http://dx.doi.org/10.1042/BST20200732
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, vol. 96, pp. e1770 - e1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2021
    Dr Elizabeth Emma Palmer
    Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, vol. 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Nevin SM; Wakefield CE; Schilstra CE; McGill BC; Bye A; Palmer EE, 2020, 'The information needs of parents of children with early-onset epilepsy: A systematic review', Epilepsy and Behavior, vol. 112, pp. 107382 - 107382, http://dx.doi.org/10.1016/j.yebeh.2020.107382
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Cheng H; Capponi S; Wakeling E; Marchi E; Li Q; Zhao M; Weng C; Stefan PG; Ahlfors H; Kleyner R; Rope A; Lumaka A; Lukusa P; Devriendt K; Vermeesch J; Posey JE; Palmer EE; Murray L; Leon E; Diaz J; Worgan L; Mallawaarachchi A; Vogt J; de Munnik SA; Dreyer L; Baynam G; Ewans L; Stark Z; Lunke S; Gonçalves AR; Soares G; Oliveira J; Fassi E; Willing M; Waugh JL; Faivre L; Riviere JB; Moutton S; Mohammed S; Payne K; Walsh L; Begtrup A; Guillen Sacoto MJ; Douglas G; Alexander N; Buckley MF; Mark PR; Adès LC; Sandaradura SA; Lupski JR; Roscioli T; Agrawal PB; Kline AD; Wang K; Timmers HTM; Lyon GJ, 2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity', Human Mutation, vol. 41, pp. 449 - 464, http://dx.doi.org/10.1002/humu.23936
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid BM; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Acampado J; Ace AJ; Amatya A; Astrovskaya I; Bashar A; Brooks E; Butler ME; Cartner LA; Chin W; Chung WK; Daniels AM; Feliciano P; Fleisch C; Ganesan S; Jensen W; Lash AE; Marini R; Myers VJ; O’Connor E; Rigby C; Robertson BE; Shah N; Shah S; Singer E; Snyder LAG; Stephens AN; Tjernagel J; Vernoia BM; Volfovsky N; White LC; Hsieh A; Shen Y; Zhou X; Turner TN; Bahl E; Thomas TR, 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, vol. 11, http://dx.doi.org/10.1038/s41467-020-19289-5
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid BM; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Acampado J; Ace AJ; Amatya A; Astrovskaya I; Bashar A; Brooks E; Butler ME; Cartner LA; Chin W; Chung WK; Daniels AM; Feliciano P; Fleisch C; Ganesan S; Jensen W; Lash AE; Marini R; Myers VJ; O’Connor E; Rigby C; Robertson BE; Shah N; Shah S; Singer E; Snyder LAG; Stephens AN; Tjernagel J; Vernoia BM; Volfovsky N; White LC; Hsieh A; Shen Y; Zhou X; Turner TN; Bahl E; Thomas TR, 2020, 'Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders', Nature Communications, vol. 11, http://dx.doi.org/10.1038/s41467-020-18723-y
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Kumar R; Palmer E; Gardner AE; Carroll R; Banka S; Abdelhadi O; Donnai D; Elgersma Y; Curry CJ; Gardham A; Suri M; Malla R; Brady LI; Tarnopolsky M; Azmanov DN; Atkinson V; Black M; Baynam G; Dreyer L; Hayeems RZ; Marshall CR; Costain G; Wessels MW; Baptista J; Drummond J; Leffler M; Field M; Gecz J, 2020, 'Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor', Frontiers in Molecular Neuroscience, vol. 13, pp. 12, http://dx.doi.org/10.3389/fnmol.2020.00012
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Kotwal H; Fleming J; Barlow-Stewart K; Boyle J; Silberbauer L; Leffler M; Murray L; Palmer EE, 2020, 'Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid', Journal of Genetic Counseling, vol. 29, pp. 668 - 677, http://dx.doi.org/10.1002/jgc4.1259
    Journal articles | 2020
    Dr Elizabeth Emma Palmer
    Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; 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 Distinct Facial Features', American Journal of Human Genetics, vol. 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005
    Journal articles | 2019
    Dr Elizabeth Emma Palmer
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, vol. 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
    Journal articles | 2019
    Dr Elizabeth Emma Palmer
    Torti E; Keren B; Palmer EE; Zhu Z; Afenjar A; Anderson IJ; Andrews MV; Atkinson C; Au M; Berry SA; Bowling KM; Boyle J; Buratti J; Cathey SS; Charles P; Cogne B; Courtin T; Escobar LF; Finley SL; Graham JM; Grange DK; Heron D; Hewson S; Hiatt SM; Hibbs KA; Jayakar P; Kalsner L; Larcher L; Lesca G; Mark PR; Miller K; Nava C; Nizon M; Pai GS; Pappas J; Parsons G; Payne K; Putoux A; Rabin R; Sabatier I; Shinawi M; Shur N; Skinner SA; Valence S; Warren H; Whalen S; Crunk A; Douglas G; Monaghan KG; Person RE; Willaert R; Solomon BD; Juusola J, 2019, 'Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature', Genetics in Medicine, vol. 21, pp. 2036 - 2042, http://dx.doi.org/10.1038/s41436-019-0454-9
    Journal articles | 2019
    Dr Elizabeth Emma Palmer
    Field M; Dudding-Byth T; Arpone M; Baker EK; Aliaga SM; Rogers C; Hickerton C; Francis D; Phelan DG; Palmer EE; Amor DJ; Slater H; Bretherton L; Ling L; Godler DE, 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, vol. 20, http://dx.doi.org/10.3390/ijms20163907
    Journal articles | 2019
    Dr Elizabeth Emma Palmer
    Lanoue V; Chai YJ; Brouillet JZ; Weckhuysen S; Palmer EE; Collins BM; Meunier FA, 2019, 'STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?', Neurology, vol. 93, pp. 114 - 123, http://dx.doi.org/10.1212/WNL.0000000000007786
    Journal articles | 2019
    Dr Elizabeth Emma Palmer
    Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT, 2019, 'De novo and biallelic DEAF1 variants cause a phenotypic spectrum', Genetics in Medicine, vol. 21, pp. 2059 - 2069, http://dx.doi.org/10.1038/s41436-019-0473-6
    Journal articles | 2018
    Dr Elizabeth Emma Palmer
    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 GMS; 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 BBA; 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 HAF; 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, vol. 102, pp. 985 - 994, http://dx.doi.org/10.1016/j.ajhg.2018.03.004
    Journal articles | 2018
    Dr Elizabeth Emma Palmer
    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 DDD; Cobben JM; Duijkers FAM; 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, vol. 23, pp. 222 - 230, http://dx.doi.org/10.1038/mp.2016.135
    Journal articles | 2018
    Dr Elizabeth Emma Palmer
    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, vol. 39, pp. 1126 - 1138, http://dx.doi.org/10.1002/humu.23557
    Journal articles | 2018
    Dr Elizabeth Emma Palmer
    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, vol. 16, pp. 46 - 51, http://dx.doi.org/10.1016/j.ymgmr.2018.07.003
    Journal articles | 2018
    Dr Elizabeth Emma Palmer
    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, vol. 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
    Journal articles | 2018
    Dr Elizabeth Emma Palmer
    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, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2017
    Dr Elizabeth Emma Palmer
    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, vol. 101, pp. 995 - 1005, http://dx.doi.org/10.1016/j.ajhg.2017.10.009
    Journal articles | 2017
    Dr Elizabeth Emma Palmer
    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, vol. 53, pp. 650 - 656, http://dx.doi.org/10.1111/jpc.13523
    Journal articles | 2017
    Dr Elizabeth Emma Palmer
    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 SDJ; Sisodiya SM; Helbig I, 2017, 'DNM1 encephalopathy', Neurology, vol. 89, pp. 385 - 394, http://dx.doi.org/10.1212/WNL.0000000000004152
    Journal articles | 2017
    Dr Elizabeth Emma Palmer
    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, vol. 12, http://dx.doi.org/10.1186/s13023-017-0672-7
    Journal articles | 2017
    Dr Elizabeth Emma Palmer
    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, vol. 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
    Journal articles | 2017
    Dr Elizabeth Emma Palmer
    Palmer EE; Sachdev R; Kandula T; Macintosh R; Kirk E; Bye A, 2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922
    Journal articles | 2016
    Dr Elizabeth Emma Palmer
    Palmer EE; Leffler M; Rogers C; Shaw M; Carroll R; Earl J; Cheung NW; Champion B; Hu H; Haas SA; Kalscheuer VM; Gecz J; Field M, 2016, 'New insights into Brunner syndrome and potential for targeted therapy', Clinical Genetics, vol. 89, pp. 120 - 127, http://dx.doi.org/10.1111/cge.12589
    Journal articles | 2016
    Dr Elizabeth Emma Palmer
    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, vol. 53, pp. 820 - 827, http://dx.doi.org/10.1136/jmedgenet-2016-103880
    Journal articles | 2016
    Dr Elizabeth Emma Palmer
    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, vol. 57, pp. 1858 - 1869, http://dx.doi.org/10.1111/epi.13560
    Journal articles | 2016
    Dr Elizabeth Emma Palmer
    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, vol. 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157
    Journal articles | 2016
    Dr Elizabeth Emma Palmer
    Palmer EE, 2016, 'Dissecting the clinical outcome and cause of abnormalities of the corpus callosum', Developmental Medicine and Child Neurology, vol. 58, pp. 430 - 431, http://dx.doi.org/10.1111/dmcn.13079
    Journal articles | 2015
    Dr Elizabeth Emma Palmer
    Kumar R; Corbett MA; Van Bon BWM; 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, vol. 97, pp. 302 - 310, http://dx.doi.org/10.1016/j.ajhg.2015.05.021
    Journal articles | 2015
    Dr Elizabeth Emma Palmer
    Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, vol. 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
    Journal articles | 2014
    Dr Elizabeth Emma Palmer
    Palmer E; Speirs H; Taylor PJ; Mullan G; Turner G; Einfeld S; Tonge B; Mowat D, 2014, 'Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability', American Journal of Medical Genetics, Part A, vol. 164, pp. 377 - 385, http://dx.doi.org/10.1002/ajmg.a.36279
    Journal articles | 2014
    Dr Elizabeth Emma Palmer
    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, vol. 166, pp. 184 - 197, http://dx.doi.org/10.1002/ajmg.c.31405
    Journal articles | 2012
    Dr Elizabeth Emma Palmer
    Palmer E; Peters G; Mowat DR, 2012, 'Chromosome microarray in Australia: A guide for paediatricians', Journal of Paediatrics and Child Health, vol. 48, pp. E59 - E67, http://dx.doi.org/10.1111/j.1440-1754.2011.02081.x
  • Conference Papers | 2020
    Dr Elizabeth Emma Palmer
    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://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000598482603418&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Other | 2019
    Dr Elizabeth Emma Palmer
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 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 | 2019
    Dr Elizabeth Emma Palmer
    Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 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, Gothenburg, SWEDEN, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, 15 June 2019 - 18 June 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313903088&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Dr Elizabeth Emma Palmer
    Luermans J; Fleming J; O'Shea R; Field M; Palmer E; Leffler M, 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 | 2018
    Dr Elizabeth Emma Palmer
    Sa MJN; Jensik PJ; Parker MJ; Lahiri N; McNeil EP; Hibbs K; Kroes HY; Stumpel CTRM; Stegmann APA; Hagerman RJ; Harrison RE; Splitt M; Montgomery T; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Cobben J; Marco EJ; de Vries BBA; Vulto-vanSilfhout AT, 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, Milan, ITALY, 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), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101223&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Elizabeth Emma Palmer
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche A; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger ME; Rosenfeld JA; Xiao R; Cho MT; Henderson LB; Sacoto MJG; Begtrup A; Hamad M; Shinawi M; Andrews M; Jones MC; Lindstrom K; Kayani S; Snyder M; Villanueva M; Schteinschnaider A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko L; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 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, Milan, ITALY, 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), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101215&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Elizabeth Emma Palmer
    Azzarello-Burri S; Joset P; andrieux J; Lopes F; Palmer E; Czeschik J; Demeer B; Duque F; Kuechler A; Maciel P, 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
    Dr Elizabeth Emma Palmer
    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, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000425754400053&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Awards

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)

Grants

 

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

 

 

 

 

 

 

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