By Professor Tony Roscioli

Journal articles

Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G; Teoh HL, 2016, 'Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia', Neurology, 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813

Kruszka P; Addissie YA; Yarnell CMP; Hadley DW; Guillen Sacoto MJ; Platte P; Paelecke Y; Collmann H; Snow N; Schweitzer T; Boyadjiev SA; Aravidis C; Hall SE; Mulliken JB; Roscioli T; Muenke M, 2016, 'Muenke syndrome: An international multicenter natural history study', American Journal of Medical Genetics, Part A, 170, pp. 918 - 929, http://dx.doi.org/10.1002/ajmg.a.37528

Doble B; Schofield DJ; Roscioli T; Mattick JS, 2016, 'The promise of personalised medicine', The Lancet, 387, pp. 433 - 434, http://dx.doi.org/10.1016/S0140-6736(16)00176-8

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

Gray PE; O’Brien TA; Wagle M; Tangye SG; Palendira U; Roscioli T; Choo S; Sutton R; Ziegler JB; Frith K, 2015, 'Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant', Journal of Clinical Immunology, 35, pp. 604 - 609, http://dx.doi.org/10.1007/s10875-015-0194-9

Ma CS; Wong N; Rao G; Avery DT; Torpy J; Hambridge T; Bustamante J; Okada S; Stoddard JL; Deenick EK; Pelham SJ; Payne K; Boisson-Dupuis S; Puel A; Kobayashi M; Arkwright PD; Kilic SS; El Baghdadi J; Nonoyama S; Minegishi Y; Mahdaviani SA; Mansouri D; Bousfiha A; Blincoe AK; French MA; Hsu P; Campbell DE; Stormon MO; Wong M; Adelstein S; Smart JM; Fulcher DA; Cook MC; Phan TG; Stepensky P; Boztug K; Kansu A; Ikincioʇullari A; Baumann U; Beier R; Roscioli T; Ziegler JB; Gray P; Picard C; Grimbacher B; Warnatz K; Holland SM; Casanova JL; Uzel G; Tangye SG, 2015, 'Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies', Journal of Allergy and Clinical Immunology, 136, pp. 993 - 1006.e1, http://dx.doi.org/10.1016/j.jaci.2015.05.036

Tomas-Roca L; Tsaalbi-Shtylik A; Jansen JG; Singh MK; Epstein JA; Altunoglu U; Verzijl H; Soria L; Van Beusekom E; Roscioli T; Iqbal Z; Gilissen C; Hoischen A; De Brouwer APM; Erasmus C; Schubert D; Brunner H; Pérez Aytés A; Marin F; Aroca P; Kayserili H; Carta A; De Wind N; Padberg GW; Van Bokhoven H, 2015, 'De novo mutations in PLXND1 and REV3L cause Möbius syndrome', Nature Communications, 6, http://dx.doi.org/10.1038/ncomms8199

Riemersma M; Mandel H; Van Beusekom E; Gazzoli I; Roscioli T; Eran A; Gershoni-Baruch R; Gershoni M; Pietrokovski S; Vissers LE; Lefeber DJ; Willemsen MA; Wevers RA; Van Bokhoven H, 2015, 'Absence of α-and β-dystroglycan is associated with Walker-Warburg syndrome', Neurology, 84, pp. 2177 - 2182, http://dx.doi.org/10.1212/WNL.0000000000001615

Gray PEA; Logan GJ; Alexander IE; Poulton S; Roscioli T; Ziegler J, 2015, 'A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency', International Journal of Immunogenetics, 42, pp. 11 - 14, http://dx.doi.org/10.1111/iji.12166

Thompson MD; Roscioli T; Hwang PA; Robinson PN; Andrade DM; Krawitz P, 2014, '8. Genetic basis of Mabry’s syndrome', Clinical Neurophysiology, 125, pp. e12 - e12, http://dx.doi.org/10.1016/j.clinph.2013.09.021

McBean R; Roscioli T; Hyland C; Flower R, 2014, 'Next generation sequencing of an australian family to identify the genetic basis of a rare blood group antigen', Pathology, 46, pp. S87 - S88, http://dx.doi.org/10.1097/01.pat.0000443640.76441.70

Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EMHF; del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JHM; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BBA; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A, 2013, 'MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study', Clinical Genetics, 84, pp. 539 - 545, http://dx.doi.org/10.1111/cge.12081

Khandelwal KD; van Bokhoven H; Roscioli T; Carels CEL; Zhou H, 2013, 'Genomic approaches for studying craniofacial disorders', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, pp. 218 - 231, http://dx.doi.org/10.1002/ajmg.c.31379

Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; Mcgaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; Mcgillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF, 2013, 'Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378

Grau T; Burbulla LF; Engl G; Delettre C; Delprat B; Oexle K; Leo-Kottler B; Roscioli T; Krüger R; Rapaport D; Wissinger B; Schimpf-Linzenbold S, 2013, 'A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network', Journal of Medical Genetics, 50, pp. 848 - 858, http://dx.doi.org/10.1136/jmedgenet-2013-101774

Buysse K; Riemersma M; Powell G; Van reeuwijk J; Chitayat D; Roscioli T; Kamsteeg EJ; Van den elzen C; Van beusekom E; Blaser S; Babul-Hirji R; Halliday W; Wright GJ; Stemple DL; Lin YY; Lefeber DJ; Van bokhoven H, 2013, 'Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome', Human Molecular Genetics, 22, pp. 1746 - 1754, http://dx.doi.org/10.1093/hmg/ddt021

Handley TW; Morris-Rosendahl DJ; Brown S; Macdonald F; Hardy C; Bem D; Carpanini SM; Borck G; Martorell L; Izzi C; Faravelli F; Accorsi P; Pinelli L; Basel-Vanagaite L; Peretz G; Abdel-Salam GMH; Zaki MS; Jansen A; Mowat DR; Glass IA; Stewart H; Mancini GMS; Lederer D; Roscioli T; Giuliano F; Plomp AS; Rolfs A; Graham JM; Seemanova E; Poo P; Garcia-Cazorla A; Edery P; Jackson IJ; Aligianis IA; Maher ER, 2013, 'Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome', Human Mutation, 34, pp. 686 - 696, http://dx.doi.org/10.1002/humu.22296

Keupp K; Li Y; Vargel I; Hoischen A; Richardson R; Neveling K; Alanay Y; Uz E; Elcioğlu N; Rachwalski M; Kamaci S; Tunçbilek G; Akin B; Grötzinger J; Konas E; Mavili E; Müller-Newen G; Collmann H; Roscioli T; Buckley MF; Yigit G; Gilissen C; Kress W; Veltman J; Hammerschmidt M; Akarsu NA; Wollnik B, 2013, 'Mutations in the interleukin receptor cause autosomal recessive Crouzon-like craniosynostosis', Molecular Genetics & Genomic Medicine, 1, pp. 223 - 237, http://dx.doi.org/10.1002/mgg3.28

Ganaiem H; Eisenstein EM; Tenenbaum ; Somech R; Simanovsky N; Roscioli T; Weintraub M; Stepensky P, 2013, 'The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome', Pediatric Allergy and Immunology, 24, pp. 250 - 256, http://dx.doi.org/10.1111/pai.12051

Justice CM; Yagnik G; Kim Y; Peter I; Jabs EW; Erazo M; Roscioli T, 2012, 'A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9', Nature Genetics, 44, pp. 1360 - 1364, http://dx.doi.org/10.1038/ng.2463

Cliffe S; Bloch D; Suryani S; Kamsteeg E; Avery D; Palendira U; Church J; Wainstein B; Trizzino A; Lefranc G; Akatcherian C; Megarbane A; Gilissen C; Moshous D; Reichenbach J; Misbah S; Salzer U; Abinun M; Ong P; Stepensky P; Ruga E; Ziegler JB; Wong M; Tangye SG; Lindeman R; Buckley M; Roscioli T, 2012, 'Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome', Journal of Allergy and Clinical Immunology, 130, pp. 735 - 742, http://dx.doi.org/10.1016/j.jaci.2012.02.054

Riviere J; Van bon BWM; Hoischen A; Kholmanskikh SS; Roscioli T, 2012, 'De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome', Nature Genetics, 44, pp. 440 - 444, http://dx.doi.org/10.1038/ng.1091

Wang T; Ong P; Roscioli T; Cliffe ST; Church J, 2012, 'Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110', Clinical Immunology, 145, pp. 102 - 107, http://dx.doi.org/10.1016/j.clim.2012.07.016

Kim S; Liu JL; Roscioli T; Buckley M; Yagnik G; Boyadjiev SA; Kim J, 2012, 'Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1', FEBS Letters, 586, pp. 1516 - 1521, http://dx.doi.org/10.1016/j.febslet.2012.04.010

Roscioli T; Kamsteeg E; Buysse K; Maystadt I; Van reeuwijk J; Buckley M, 2012, 'Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of [alpha]-dystroglycan', Nature Genetics, 44, pp. 581 - 585, http://dx.doi.org/10.1038/ng.2253

Krawitz PM; Murakami Y; Hecht J; Kruger U; Holder SE; Roscioli T, 2012, 'Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation', American Journal of Human Genetics, 91, pp. 146 - 151, http://dx.doi.org/10.1016/j.ajhg.2012.05.004

Roscioli T, 2012, 'Next generation sequencing: a practical approach to an ethical framework for use in diagnostics and research', Pathology, 44, pp. S30 - S30, http://dx.doi.org/10.1016/s0031-3025(16)32672-1

Thompson M; Roscioli T; Marcelis C; Nezarati MM; Stolte-dijkstra I, 2012, 'Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)', American Journal of Medical Genetics Part A, 158A, pp. 553 - 558, http://dx.doi.org/10.1002/ajmg.a.35202

Vissers LELM; Cox TC; Maga AM; Short KM; Wiradjaja F; Janssen IM; Jehee F; Bertola D; Liu J; Yagnik G; Sekiguchi K; Kiyozumi D; van Bokhoven H; Marcelis C; Cunningham ML; Anderson PJ; Boyadjiev SA; Passos-Bueno MR; Veltman JA; Smyth I; Buckley MF; Roscioli T, 2011, 'Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice', PLoS Genetics, 7, pp. e1002278, http://dx.doi.org/10.1371/journal.pgen.1002278

Guillard M; Morava E; De Ruijter J; Roscioli T; Penzien J; Van Den Heuvel L; Willemsen MA; De Brouwer A; Bodamer OA; Wevers RA; Lefeber DJ, 2011, 'B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement', Journal of Pediatrics, 159, pp. 1041 - 1043.e2, http://dx.doi.org/10.1016/j.jpeds.2011.08.007

Rieubland C; Holmes AD; Caramins M; Roscioli T; Amor DJ, 2011, 'Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?', American Journal of Medical Genetics, Part A, 155, pp. 233 - 234, http://dx.doi.org/10.1002/ajmg.a.33776

Krawitz PM; Schweiger MR; Rödelsperger C; Marcelis C; Kölsch U; Meisel C; Stephani F; Kinoshita T; Murakami Y; Bauer S; Isau M; Fischer A; Dahl A; Kerick M; Hecht J; Köhler S; Jäger M; Grünhagen J; De Condor BJ; Doelken S; Brunner HG; Meinecke P; Passarge E; Thompson MD; Cole DE; Horn D; Roscioli T; Mundlos S; Robinson PN, 2010, 'Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome', Nature Genetics, 42, pp. 827 - 829, http://dx.doi.org/10.1038/ng.653

van Reeuwijk J; Olderode-Berends MJW; van den Elzen C; Brouwer OF; Roscioli T; van Pampus MG; Scheffer H; Brunner HG; van Bokhoven H; Hol FA, 2010, 'A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum', Clinical Genetics, 78, pp. 275 - 281, http://dx.doi.org/10.1111/j.1399-0004.2010.01384.x

Kouwenhoven EN; va Heeringen SJ; Tena JJ; Oti M; Dutilh BE; Alonso ME; de la Elisa CM; Smeenk L; Rinne T; Parsaulian L; Bolat E; Jurgelenaite R; Huynen MA; Hoischen A; Veltman JA; Brunner HG; Roscioli T; Oates E; Wilson M; Manzanares M; José LGS; Stunnenberg HG; Lohrum M; van Bokhoven H; Zhou H, 2010, 'Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 shfm1 locus', PLoS Genetics, 6, pp. e1001065, http://dx.doi.org/10.1371/journal.pgen.1001065

Ramjan K; Roscioli T; Rutsch F; Sillence D; Munns C, 2009, 'Erratum: Generalized arterial calcification of infancy: Treatment with bisphosphonates (Nature Clinical Practice Endocrinology & Metabolism (2009) 5 (167-172))', Nature Reviews Endocrinology, 5, pp. 183, http://dx.doi.org/10.1038/nrendo.2009.56

Ramjan KA; Roscioli T; Rutsch F; Sillence D; Munns CFJ, 2009, 'Generalized arterial calcification of infancy: Treatment with bisphosphonates', Nature Clinical Practice Endocrinology and Metabolism, 5, pp. 167 - 172, http://dx.doi.org/10.1038/ncpendmet1067

Padidela R; James C; Cliffe ST; Kramer JM; Robben JH; de Jong EK; de Brouwer AP; Nibbeling E; Kamsteeg E-J; Wong M; Prendiville J; Becknell C; van Bokhoven H; Deen PMT; Hennekam RCM; Lindeman R; Schenck A; Roscioli T; Buckley MF; Hussain K, 2009, 'Pigmentary hypertrichosis and insulin dependent diabetes mellitus (PHID) is caused by mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3)', HORMONE RESEARCH, 72, pp. 39 - 39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000270489900123&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

James P; Culling B; Mullan GL; Jenkins MA; Elalkis G; Turners A; Mowat D; Wilson M; Anderson P; Savarirayan R; Cliffe ST; Caramins MC; Buckley MF; Tucker K; Roscioli T, 2009, 'Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study', Genes Chromosomes and Cancer, 48, pp. 533 - 538

Bochukova E; Roscioli T; Hedges D; Taylor I; Johnson D; David DJ; Deininger P; Wilkie A, 2009, 'Rare mutations of FGFR2 causing apert syndrome: Identification of the first partial gene deletion, and an Alu element insertion from a new subfamily', Human Mutation, 30, pp. 204 - 211

Cliffe S; Kramer MA; Hussain K; Robben J; de Jong E; de Brouwer A; Nibbeling E; Kamsteeg E; Wong M; Prendiville J; James C; Padidela R; Becknell C; van Bokhoven H; Deen P; Hennekam RC; Lindeman R; Schenck A; Roscioli T; Buckley M, 2009, 'SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway', Human Molecular Genetics, 18, pp. 2257 - 2265

Freeman L; Elakis G; Watson G; Mullan GL; Taylor PJ; Anderson P; Ogle R; Buckley MF; Roscioli T, 2008, 'Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation', Clinical Dysmorphology, 17, pp. 223 - 224, http://dx.doi.org/10.1097/MCD.0b013e3282fdcc86

Zankl A; Elakis G; Susman RD; Inglis G; Gardener G; Buckley MF; Roscioli T, 2008, 'Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation', American Journal of Medical Genetics, Part A, 146, pp. 212 - 218, http://dx.doi.org/10.1002/ajmg.a.32085

Anderson PJ; Cox TC; Roscioli T; Elakis G; Smithers L; David DJ; Powell B, 2007, 'Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis', Journal of Craniofacial Surgery, 18, pp. 312 - 314, http://dx.doi.org/10.1097/scs.0b013e31802d6e76

Khong JJ; Anderson PJ; Hammerton M; Roscioli T; Selva D; David DJ, 2007, 'Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome', Journal of Craniofacial Surgery, 18, pp. 39 - 42, http://dx.doi.org/10.1097/01.scs.0000249358.74343.70

Munns CF; Roscioli T; Sillence DO, 2007, 'Infantile arterial calcification: Successful treatment with bisphosphonates', Bone, 40, pp. S68 - S68, http://dx.doi.org/10.1016/j.bone.2007.04.094

Cliffe ST; Wong MB; Taylor PJ; Ruga E; Wilcken B; Lindeman R; Buckley MF; Roscioli T, 2007, 'The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110', Prenatal Diagnosis, 27, pp. 674 - 676

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

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