By Professor Tony Roscioli

Journal articles

Varol A; Stapleton K; Roscioli T, 2006, 'The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation', Australasian Journal of Dermatology, 47, pp. 274 - 276, http://dx.doi.org/10.1111/j.1440-0960.2006.00294.x

Anderson PJ; Netherway DJ; Cox TC; Roscioli T; David DJ, 2006, 'Do craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?', Journal of Craniofacial Surgery, 17, pp. 166 - 172, http://dx.doi.org/10.1097/01.scs.0000169000.58376.0f

McGaughran J; Sinnott S; Susman R; Buckley MF; Elakis G; Cox T; Roscioli T, 2006, 'A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype', Clinical Dysmorphology, 15, pp. 89 - 93

Roscioli T; Cliffe ST; Bloch D; Bell C; Mullan GL; Taylor PJ; Sarris M; Wang J; Donald JA; Kirk EP; Ziegler JB; Salzer U; McDonald GB; Wong M; Lindeman R; Buckley MF, 2006, 'Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease', Nature Genetics, 38, pp. 620 - 622

Elliott AM; Reed MH; Roscioli T; Evans JA, 2005, 'Discrepancies in upper and lower limb patterning in split hand foot malformation', Clinical Genetics, 68, pp. 408 - 423, http://dx.doi.org/10.1111/j.1399-0004.2005.00511.x

McGillivray G; Savarirayan R; Cox TC; Stojkoski C; McNeil R; Bankier A; Bateman JF; Roscioli T; Gardner RJM; Lamandé SR, 2005, 'Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain', Journal of Medical Genetics, 42, pp. 656 - 662, http://dx.doi.org/10.1136/jmg.2004.027888

Roscioli T; Kennedy D; Cui JS; Fonseca BK; Watson GF; Pereira JK; Xie Y; Mowat DR, 2005, 'Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation', American Journal of Medical Genetics Part A, 136A, pp. 390 - 394

Anderson PJ; Netherway DJ; Abbott AH; Cox T; Roscioli T; David DJ, 2004, 'Analysis of intracranial volume in Apert syndrome genotypes', Pediatric Neurosurgery, 40, pp. 161 - 164, http://dx.doi.org/10.1159/000081933

Morris AR; Mullan GL; Roscioli T; Buckley MF; Moore CH, 2004, 'A genetic linkage study of detrusor overactivity', Neurourology and Urodynamics, 23, pp. 404 - 406

Roscioli T; Taylor PC; Bohlken A; Donald JA; Masel J; Glass I; Buckley MF, 2004, 'The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing ofthe critical region and confirmation of the clinical phenotype', American Journal of Medical Genetics Part A, 124A, pp. 136 - 141

Rutsch F; Ruf N; Vaingankar S; Toliat MR; Suk A; Höhne W; Schauer G; Lehmann M; Roscioli T; Schnabel D; Epplen JT; Knisely A; Superti-Furga A; McGill J; Filippone M; Sinaiko AR; Vallance H; Hinrichs B; Smith W; Ferre M; Terkeltaub R; Nürnberg P, 2003, 'Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification', Nature Genetics, 34, pp. 379 - 381, http://dx.doi.org/10.1038/ng1221

Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA, 2003, 'Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia', American Journal of Medical Genetics, 120 A, pp. 157 - 168, http://dx.doi.org/10.1002/ajmg.a.20012

Milledge J; Shaw PJ; Mansour A; Williamson S; Bennetts B; Roscioli T; Curtin J; Christodoulou J, 2002, 'Allogeneic bone marrow transplantation: Cure for familial Mediterranean fever', Blood, 100, pp. 774 - 777, http://dx.doi.org/10.1182/blood-2002-02-0651

Roscioli T; Flanagan S; Mortimore RJ; Kumar P; Weedon D; Masel J; Lewandowski R; Hyland V; Glass IA, 2001, 'Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3', American Journal of Medical Genetics, 101, pp. 187 - 194, http://dx.doi.org/10.1002/ajmg.1369

Roscioli T; Flanagan S; Kumar P; Masel J; Gattas M; Hyland VJ; Glass IA, 2000, 'Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature', American Journal of Medical Genetics, 93, pp. 22 - 28, http://dx.doi.org/10.1002/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U

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

Conference Posters

Roscioli T; Teoh HL; Zhu Y; Sampaio H; Mowat D; Buckley M; Farrar MA, 2016, 'Next Generation Sequencing in Spinal muscular atrophy syndromes', Kyoto, Japan, presented at 13th International Congress of Human Genetics, Kyoto, Japan

Gray P; Buckley M; Ziegler J; Lo W; Elakise G; Mackintosh R; Mullan G; O'Brien T; Walsh C; Minoche A; Zhu Y; Gayevskiy V; Lee E; Cowley M; Dinger M; Roscioli T, 2015, 'MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF HETEROZYGOUS FAS DELETION', Vol. 45, pp. 21 - 21, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360834700069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Conference Abstracts

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

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

Barlow-Stewart KK; Josephi-Taylor S; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk E, 2018, 'User acceptability of whole exome pre-conception carrier testing for consanguineous couples in Australia', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 724 - 725, 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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313105212&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Goodnow C; Reed J; Burnett D; Brink R; Christ D; Schofield P; Perotti S; Enders A; Ziegler J; Wainstein B; Roscioli T; Gray P, 2016, 'Redemption or Revolt of Forbidden Clones: Mutations, Autoantibodies and CTLA4-Ig Therapy', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 3 - 3, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, 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:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Gray PE; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Kashef S; Cowley M; Dinger M; Buckley MF; Ziegler JB; Roscioli T, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Preprints

Vetro A; Balestrini S; Pelorosso C; Masi A; Hambleton S; Argilli E; Conti V; Giubbolini S; Barrick R; Bergant G; Writzl K; Bijlsma EK; Brunet T; Cacheiro P; Mei D; Devlin A; Hoffer MJV; Machol K; Mannaioni G; Sakamoto M; Menezes MP; Courtin T; Sherr E; Parra R; Richardson R; Roscioli T; Scala M; Stülpnagel CV; Smedley D; Torella A; Tohyama J; Koichihara R; Hamada K; Ogata K; Suzuki T; Sugie A; van der Smagt JJ; van Gassen K; Valence S; Vittery E; Kato M; Matsumoto N; Ratto GM; Guerrini R, 2022, Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration, http://dx.doi.org/10.1101/2022.11.22.22282283

Kuroda Y; Iwata-Otsubo A; Dias K-R; Temple SEL; Nagao K; De Hayr L; Zhu Y; Isobe S-Y; Nishibuchi G; Fiordaliso SK; Fujita Y; Rippert AL; Baker SW; Leung ML; Koboldt DC; Harman A; Keena BA; Kazama I; Musuwadi Subramanian G; Manickam K; Schmalz B; Latsko M; Zackai EH; Edwards M; Evans C-A; Dulik MC; Buckley MF; Yamashita T; O’Brien WT; Harvey RJ; Obuse C; Roscioli T; Izumi K, 2020, Dominant-negative mutations inCBX1cause a neurodevelopmental disorder, http://dx.doi.org/10.1101/2020.09.29.319228

Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453

Chiapparino A; De Giorgi F; Scietti L; Faravelli S; Roscioli T; Forneris F, 2019, A cooperative network of molecular “hot spots” highlights the complexity of LH3 collagen glycosyltransferase activities, http://dx.doi.org/10.1101/841486

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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