By Professor Edwin Philip Enfield Kirk

Conference Abstracts

Goh S; Bowden R; Pinese M; Kirk E, 2022, 'More accurate penetrance estimates for neurosusceptibility loci lead to significantly reduced penetrance estimates', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 30, pp. 449 - 449, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367702162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Sundercombe S; Walsh R; Hanna B; Elserafy N; Kirk E; Zhang F; Zhu Y; Buckley M; Aklilu E; Roscioli T, 2022, 'PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry', in Pathology, Elsevier BV, Vol. 54, pp. S72 - S73, http://dx.doi.org/10.1016/j.pathol.2021.12.239

Yap JY; Gloss B; Batten M; Hsu P; Berglund L; Polizzotto M; Kirk E; Deenick E; Ma C; Tangye S; Phan TG, 2019, 'EVEROLIMUS-INDUCED REMISSION OF KAPOSI'S SARCOMA SECONDARY TO CRYPTIC CTLA4 SPLICING AND HAPLOINSUFFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 49, pp. 35 - 36, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488891400106&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

Roessler HI; McClenaghan C; Huang Y; Halabi CM; Harter T; Savelberg S; Tessadori F; Bakkers J; Kovacs A; Remedi MS; Kirk EP; Scurr I; Smithson SF; van Haelst MM; Grange DK; Nichols CG; van Haaften G, 2019, 'Towards the treatment of Cantu syndrome', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1091 - 1092, 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:000489313900105&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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

Grange DK; Singh GK; Nichols CG; Lee J-M; Remedi MS; Smithson SF; Scurr I; Kirk EP; van Haelst M; van Haaften G, 2017, 'CANTU SYNDROME NATURAL HISTORY STUDIES: CLINICAL INVESTIGATIONS ON 18 PATIENTS AND REPORT ON INTERNATIONAL REDCAP REGISTRY DATA ON 58 PATIENTS', in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, WILEY, VT, Stowe, Vol. 176, pp. 1529 - 1530, presented at 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, VT, Stowe, 26 August 2017 - 29 August 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000434040600163&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kasparian NA; Nielson-Jones C; Glover V; Swinsburg D; Walker K; Badawi N; Austin M-P; Barnett B; Grant K-A; Kirk EP; Winlaw DS; Sholler GF, 2016, 'PSYCHOBIOLOGICAL OUTCOMES IN PARENTS AND THEIR INFANTS AFTER FETAL OR POSTNATAL DIAGNOSIS OF COMPLEX CONGENITAL HEART DISEASE', in INTERNATIONAL JOURNAL OF BEHAVIORAL MEDICINE, SPRINGER, Vol. 23, pp. S93 - S93, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388943400296&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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