By Professor Tony Roscioli

Journal articles

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 - 10e2, 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 DB; Bell CG; Mullan G; 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.', Nat Genet, 38, pp. 620 - 622, http://dx.doi.org/10.1038/ng1780

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 G; Roscioli T; Buckley MF; Moore KH, 2004, 'A genetic linkage study of detrusor overactivity', NEUROUROLOGY AND URODYNAMICS, 23, pp. 404 - 406, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000223051900007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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

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