By Dr Elizabeth Emma Palmer

Journal articles

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; Palmer E, 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

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, 89, pp. 120 - 127, http://dx.doi.org/10.1111/cge.12589

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; Palmer E, 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

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, 97, pp. 302 - 310, http://dx.doi.org/10.1016/j.ajhg.2015.05.021

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, 164, pp. 377 - 385, http://dx.doi.org/10.1002/ajmg.a.36279

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

Palmer E; Peters G; Mowat DR, 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

Conference Papers

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://dx.doi.org/10.26190/unsworks/28005

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

Conference Abstracts

Tremblay-Laganiere C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; 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; Rusch 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, 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

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, 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, http://dx.doi.org/10.26190/unsworks/27545

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], SWEDEN, Gothenburg, Vol. 277, pp. 1781 - 1782, presented at European Society of Human Genetics, SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019

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, 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

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; Palmer E, 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

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

Preprints

Dunn M; Strnadová I; Scully JL; Hansen J; Palmer EE, 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

Brett G; Ward A; Bouffler S; Palmer E; Boggs K; Lynch F; Springer A; Nisselle A; Stark Z, 2022, Co-design, implementation, and evaluation of plain language genomic test reports, , http://dx.doi.org/10.21203/rs.3.rs-1721168/v1

Palmer E; Danker J; Strnadová I; Loblinzk J; Jackaman K-M; Scully JL; Dunn M; Sarfaraz S; Tso M; Boyle J; Fitzgerald V; Sierra Classen Sierra Classen1 , 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

McKnight L; Schultz A; Vidic N; Palmer E; Jaffe A, 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

Shi Y; van Rhijn J-R; Bormann M; Mossink B; Frega M; Recaioglu H; Hakobjan M; Gunnewiek TK; Schoenmaker C; Palmer E; Faivre L; Kittel-Schneider S; Schubert D; Brunner H; Franke B; Kasri NN, 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

Other

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; Palmer E, 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)), Elsevier, , http://dx.doi.org/10.1016/j.ajhg.2019.03.016

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