By Professor Tony Roscioli

Journal articles

Cox LL; Cox TC; Moreno Uribe LM; Zhu Y; Richter CT; Nidey N; Standley JM; Deng M; Blue E; Chong JX; Yang Y; Carstens RP; Anand D; Lachke SA; Smith JD; Dorschner MO; Bedell B; Kirk E; Hing AV; Venselaar H; Valencia-Ramirez LC; Bamshad MJ; Glass IA; Cooper JA; Haan E; Nickerson DA; van Bokhoven H; Zhou H; Krahn KN; Buckley MF; Murray JC; Lidral AC; Roscioli T, 2018, 'Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate', American Journal of Human Genetics, 102, pp. 1143 - 1157, http://dx.doi.org/10.1016/j.ajhg.2018.04.009

Leblanc S; David D; Colley A; Buckley M; Roscioli T; Barnett C, 2018, 'Atypical skin manifestations in FGFR2-related craniosynostosis syndromes broaden the phenotypic spectrum', Molecular Syndromology, 9, pp. 149 - 153, http://dx.doi.org/10.1159/000488439

Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J, 2018, 'MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype', Neurogenetics, 19, pp. 93 - 103, http://dx.doi.org/10.1007/s10048-018-0541-0

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY; Palmer E, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006

Cliffe C; Elakis G; Zhu Y; Mullan G; Mead R; Kirk E; Lau C; Buckley MF; Roscioli T, 2018, 'The validation of a diagnostic exome sequencing service for the investigation of monogenic disorders', Pathology, 50, pp. S63 - S64, http://dx.doi.org/10.1016/j.pathol.2017.12.149

Doble B; Schofield DJ; Roscioli T; Mattick JS, 2017, 'Prioritising the application of genomic medicine', Npj Genomic Medicine, 2, http://dx.doi.org/10.1038/s41525-017-0037-0

Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A; Palmer E, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088

Balasubramaniam S; Riley LG; Bratkovic D; Ketteridge D; Manton N; Cowley MJ; Gayevskiy V; Roscioli T; Mohamed M; Gardeitchik T; Morava E; Christodoulou J, 2017, 'Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency', Journal of Inherited Metabolic Disease, 40, pp. 745 - 747, http://dx.doi.org/10.1007/s10545-017-0036-4

Yanes T; Meiser B; Young MA; Kaur R; Mitchell G; Barlow-Stewart K; Roscioli T; Halliday J; James P, 2017, 'Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: Protocol of a prospective study', BMC Cancer, 17, http://dx.doi.org/10.1186/s12885-017-3485-0

Platzer K; Yuan H; Schütz H; Winschel A; Chen W; Hu C; Kusumoto H; Heyne HO; Helbig KL; Tang S; Willing MC; Tinkle BT; Adams DJ; Depienne C; Keren B; Mignot C; Frengen E; Strømme P; Biskup S; Döcker D; Strom TM; Mefford HC; Myers CT; Muir AM; LaCroix A; Sadleir L; Scheffer IE; Brilstra E; van Haelst MM; van der Smagt JJ; Bok LA; Møller RS; Jensen UB; Millichap JJ; Berg AT; Goldberg EM; De Bie I; Fox S; Major P; Jones JR; Zackai EH; Abou Jamra R; Rolfs A; Leventer RJ; Lawson JA; Roscioli T; Jansen FE; Ranza E; Korff CM; Lehesjoki AE; Courage C; Linnankivi T; Smith DR; Stanley C; Mintz M; McKnight D; Decker A; Tan WH; Tarnopolsky MA; Brady LI; Wolff M; Dondit L; Pedro HF; Parisotto SE; Jones KL; Patel AD; Franz DN; Vanzo R; Marco E; Ranells JD; Di Donato N; Dobyns WB; Laube B; Traynelis SF; Lemke JR, 2017, 'GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, 54, pp. 460 - 470, http://dx.doi.org/10.1136/jmedgenet-2016-104509

Murray N; Burgess B; Hay R; Colley A; Rajagopalan S; McGaughran J; Patel C; Enriquez A; Goodwin L; Stark Z; Tan T; Wilson M; Roscioli T; Tekin M; Goel H, 2017, 'KBG syndrome: An Australian experience', American Journal of Medical Genetics Part A, 173, pp. 1866 - 1877, http://dx.doi.org/10.1002/ajmg.a.38121

Baynam G; Broley S; Bauskis A; Pachter N; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Schofield L; Helmholz P; Palmer R; Kung S; Walker CE; Molster C; Lewis B; Mina K; Beilby J; Pathak G; Poulton C; Groza T; Zankl A; Roscioli T; Dinger ME; Mattick JS; Gahl W; Groft S; Tifft C; Taruscio D; Lasko P; Kosaki K; Wilhelm H; Melegh B; Carapetis J; Jana S; Chaney G; Johns A; Owen PW; Daly F; Weeramanthri T; Dawkins H; Goldblatt J, 2017, 'Initiating an undiagnosed diseases program in the Western Australian public health system', Orphanet Journal of Rare Diseases, 12, pp. 83, http://dx.doi.org/10.1186/s13023-017-0619-z

De Sousa SMC; McCabe MJ; Wu K; Roscioli T; Gayevskiy V; Brook K; Rawlings L; Scott HS; Thompson TJ; Earls P; Gill AJ; Cowley MJ; Dinger ME; McCormack AI, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944

Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C, 2017, 'Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy', European Journal of Human Genetics, 25, pp. 763 - 767, http://dx.doi.org/10.1038/ejhg.2017.29

Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Thorburn DR; Prelog K; Bahlo M; Sue CM; Balasubramaniam S; Christodoulou J, 2017, 'A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders', Journal of Inherited Metabolic Disease, 40, pp. 261 - 269, http://dx.doi.org/10.1007/s10545-016-0010-6

Liu H; Busch T; Eliason S; Anand D; Bullard S; Gowans LJJ; Nidey N; Petrin A; Augustine-Akpan EA; Saadi I; Dunnwald M; Lachke SA; Zhu Y; Adeyemo A; Amendt B; Roscioli T; Cornell R; Murray J; Butali A, 2017, 'Exome sequencing provides additional evidence for the involvement of ARHGAP29 in mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate', Birth Defects Research, 109, pp. 27 - 37, http://dx.doi.org/10.1002/bdra.23596

Baynam G; Bowman F; Lister K; Walker CE; Pachter N; Goldblatt J; Boycott KM; Gahl WA; Kosaki K; Adachi T; Ishii K; Mahede T; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Broley S; Schofield L; Verhoef H; Groza T; Zankl A; Robinson PN; Haendel M; Brudno M; Mattick JS; Dinger ME; Roscioli T; Cowley MJ; Olry A; Hanauer M; Alkuraya FS; Taruscio D; Posada De La Paz M; Lochmüller H; Bushby K; Thompson R; Hedley V; Lasko P; Mina K; Beilby J; Tifft C; Davis M; Laing NG; Julkowska D; Le Cam Y; Terry SF; Kaufmann P; Eerola I; Norstedt I; Rath A; Suematsu M; Groft SC; Austin CP; Draghia-Akli R; Weeramanthri TS; Molster C; Dawkins HJS, 2017, 'Improved diagnosis and care for rare diseases through implementation of precision public health framework', Advances in Experimental Medicine and Biology, 1031, pp. 55 - 94, http://dx.doi.org/10.1007/978-3-319-67144-4_4

Teoh HL; Carey K; Sampaio H; Mowat D; Roscioli T; Farrar M, 2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, 2017, pp. 6509493, http://dx.doi.org/10.1155/2017/6509493

Teoh HL; Sampaio H; Roscioli T; Farrar M, 2016, 'Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing', Journal of Neurology Neurosurgery and Psychiatry, 87, pp. 1384 - 1385, http://dx.doi.org/10.1136/jnnp-2016-313812

Farrar MA; Teoh HL; Brammah S; Roscioli T; Cardamone M, 2016, 'Glial mitochondropathy in infantile neuroaxonal dystrophy: Pathophysiological and therapeutic implications', Brain, 139, pp. e67, http://dx.doi.org/10.1093/brain/aww174

Heimer G; Kerätär JM; Riley LG; Balasubramaniam S; Eyal E; Pietikäinen LP; Hiltunen JK; Marek-Yagel D; Hamada J; Gregory A; Rogers C; Hogarth P; Nance MA; Shalva N; Veber A; Tzadok M; Nissenkorn A; Tonduti D; Renaldo F; Bamshad MJ; Leal SM; Nickerson DA; Anderson P; Annable M; Blue EM; Buckingham KJ; Chin J; Chong JX; Cornejo R; Davis CP; Frazar C; He Z; Jarvik GP; Jimenez G; Johanson E; Kolar T; Krauter SA; Luksic D; Marvin CT; McGee S; McGoldrick DJ; Patterson K; Perez M; Phillips SW; Pijoan J; Robertson PD; Santos-Cortez R; Shankar A; Slattery K; Shively KM; Siegel DL; Smith JD; Tackett M; Wang G; Wegener M; Weiss JM; Wernick RI; Wheeler MM; Yi Q; Kraoua I; Panteghini C; Valletta L; Garavaglia B; Cowley MJ; Gayevskiy V; Roscioli T; Silberstein JM; Hoffmann C; Raas-Rothschild A; Tiranti V; Anikster Y; Christodoulou J; Kastaniotis AJ; Ben-Zeev B; Hayflick SJ, 2016, 'MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder', American Journal of Human Genetics, 99, pp. 1229 - 1244, http://dx.doi.org/10.1016/j.ajhg.2016.09.021

Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ, 2016, 'Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing', Neurogenetics, 17, pp. 265 - 270, http://dx.doi.org/10.1007/s10048-016-0495-z

Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H; Teoh HL, 2016, 'Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency', Pediatrics, 138, pp. e20161068, http://dx.doi.org/10.1542/peds.2016-1068

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', 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

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

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

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

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