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Conference Abstracts

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

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

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

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

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


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