By Professor Tony Roscioli

Conference Papers

Groza T; Roscioli T; Baynam G; Dawkins H; Haendel M; Mungall C; Smedley D; Robinson P; Dinger M; Zankl A, 2017, 'Patient Archive: A platform for clinical deep phenotyping', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, DENMARK, Copenhagen, pp. 703 - 703, presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, DENMARK, Copenhagen, 27 May 2017 - 30 May 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489312606144&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kennedy D; Roscioli T; Turner A, 2016, 'Goldenhar Syndrome following First Trimester PTU Exposure: How Do We Counsel Patients Now?', in BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, WILEY-BLACKWELL, pp. 442 - 442, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000379024100151&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Gray P; Walsh C; Elakis G; Buckley M; Ziegler J; Roscioli T, 2014, 'A Successful Application of Next Generation Sequencing to the Diagnosis of Adaptive Primary Immunodeficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S343 - S344, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100435&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Wang T; Ong P; Roscioli T; Cliffe ST; Lindeman R; Buckley MF; Church J, 2008, 'Veno-occlusive disease with immunodeficiency (VODI): First reported case in the US and identification of a unique mutation in the gene encoding a PML nuclear body protein, SP110', in Clinical Immunology, Academic Press Inc Elsevier Science, San Diego, Ca, USA, pp. S61 - S61, presented at 8th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston, Massachusetts, 05 June 2008 - 09 June 2008, http://dx.doi.org/10.1016/j.clim.2008.03.168

Roscioli T; Buckley MF; Taylor PJ; Kirk E; Ziegler J; Wong M; Donald JA; Lindeman R, 2003, 'Familial veno-occlusive disease of the liver with immunodeficiency: Localization to a 1Mb region of 2q36.3-37.1 via homozygosity mapping.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, CALIFORNIA, LOS ANGELES, pp. 467 - 467, presented at Annual Meeting of the American-Society-of-Human-Genetics, CALIFORNIA, LOS ANGELES, 04 November 2003 - 08 November 2003, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599701744&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Turner AM; Roscioli T; Elakis G; Taylor PJ; Cox T; Haan E; Oley C; McGaughran J; Dixon J; Edwards M; Savarirayan R; Gianoutsos M; David DJ; Buckley MF; Pospisil V, 2003, 'Molecular testing for TWIST and FGFR1-3 mutations in a cohort of 153 craniofacial patients.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, CALIFORNIA, LOS ANGELES, pp. 212 - 212, presented at Annual Meeting of the American-Society-of-Human-Genetics, CALIFORNIA, LOS ANGELES, 04 November 2003 - 08 November 2003, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599700254&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Roscioli T; Buckley MF; Kirk E; Isaacs D; Wong M; Ziegler J; Lindeman R, 2002, 'Familial Veno-occlusive disease of the liver with immunodeficiency: homozygosity mapping and call for patients', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, MARYLAND, BALTIMORE, pp. 282 - 282, presented at 52nd Annual Meeting of the American-Society-of-Human-Genetics, MARYLAND, BALTIMORE, 15 October 2002 - 19 October 2002, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000178025800648&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Clarke N; Roscioli T; Taylor PJ; Yip MY; Jackson J; Buckley MF; Turner A, 2000, 'A further case of the Angelman syndrome molecular defect presenting with an atypical phenotype.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, pp. 345 - 345, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000089400701922&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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