By Professor Tony Roscioli

Journal articles

Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; De Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System', JAMA - Journal of the American Medical Association, 323, pp. 2503 - 2511, http://dx.doi.org/10.1001/jama.2020.7671

Van Eyck L; Bruni F; Ronan A; Briggs TA; Roscioli T; Rice GI; Vassallo G; Rodero MP; He L; Taylor RW; Livingston JH; Chrzanowska-Lightowlers ZMA; Crow YJ, 2020, 'Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy', Neuropediatrics, 51, pp. 178 - 184, http://dx.doi.org/10.1055/s-0039-3400979

Selvanathan A; Nixon CY; Zhu Y; Scietti L; Forneris F; Moreno Uribe LM; Lidral AC; Jezewski PA; Mulliken JB; Murray JC; Buckley MF; Cox TC; Roscioli T, 2020, 'CDH1 mutation distribution and type suggests genetic differences between the etiology of orofacial clefting and gastric cancer', Genes, 11, pp. 391, http://dx.doi.org/10.3390/genes11040391

Schofield DJ; Tan O; Shrestha RN; Rajkumar R; West S; Rice M; Kasparian N; Boyle J; Christie L; Leffler M; Murray L; Tanton R; Li J; Roscioli T; Field M, 2020, 'IDMOD: An Australian microsimulation model of lifetime economic and social factors in familial intellectual disability', International Journal of Microsimulation, 13, pp. 52 - 66, http://dx.doi.org/10.34196/ijm.00212

Cheng H; Capponi S; Wakeling E; Marchi E; Li Q; Zhao M; Weng C; Stefan PG; Ahlfors H; Kleyner R; Rope A; Lumaka A; Lukusa P; Devriendt K; Vermeesch J; Posey JE; Palmer EE; Murray L; Leon E; Diaz J; Worgan L; Mallawaarachchi A; Vogt J; de Munnik SA; Dreyer L; Baynam G; Ewans L; Stark Z; Lunke S; Gonçalves AR; Soares G; Oliveira J; Fassi E; Willing M; Waugh JL; Faivre L; Riviere JB; Moutton S; Mohammed S; Payne K; Walsh L; Begtrup A; Guillen Sacoto MJ; Douglas G; Alexander N; Buckley MF; Mark PR; Adès LC; Sandaradura SA; Lupski JR; Roscioli T; Agrawal PB; Kline AD; Wang K; Timmers HTM; Lyon GJ, 2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity', Human Mutation, 41, pp. 449 - 464, http://dx.doi.org/10.1002/humu.23936

Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti‐Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf‐Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Cover, Volume 41, Issue 10', Human Mutation, 41, http://dx.doi.org/10.1002/humu.24115

Buckley MF; Elakis G; Lang S; Richards A; Cliffe C; Chan C-Y; Kirk EP; Zhu Y; Roscioli T, 2020, 'Indications and outcomes of rapid turn around time whole exome sequencing studies', Pathology, 52, pp. S29 - S29, http://dx.doi.org/10.1016/j.pathol.2020.01.120

Evans CA; Pinner J; Chan CY; Bowyer L; Mowat D; Buckley MF; Roscioli T, 2019, 'Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing', American Journal of Medical Genetics, Part A, 179, pp. 2152 - 2157, http://dx.doi.org/10.1002/ajmg.a.61295

Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; van Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans', Human Mutation, 40, pp. 1813 - 1825, http://dx.doi.org/10.1002/humu.23793

Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; DInger M; Buckley M; Roscioli T, 2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019

Ma A; Gurnasinghani S; Kirk EP; McClenaghan C; Singh GK; Grange DK; Pandit C; Zhu Y; Roscioli T; Elakis G; Buckley M; Mehta B; Roberts P; Mervis J; Biggin A; Nichols CG, 2019, 'Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience', American Journal of Medical Genetics, Part A, 179, pp. 1585 - 1590, http://dx.doi.org/10.1002/ajmg.a.61200

Fleming J; Terrill B; Dziadek M; Kirk EP; Roscioli T; Barlow-Stewart K, 2019, 'Personal genomic screening: How best to facilitate preparedness of future clients', European Journal of Medical Genetics, 62, pp. 397 - 404, http://dx.doi.org/10.1016/j.ejmg.2019.05.006

Kirk EP; Barlow-Stewart K; Josephi-Taylor S; Roscioli T, 2019, 'Response to Suthers and Mina', Genetics in Medicine, 21, pp. 1258, http://dx.doi.org/10.1038/s41436-018-0318-8

Cowley MJ; Liu YC; Oliver KL; Carvill G; Myers CT; Gayevskiy V; Delatycki M; Vlaskamp DRM; Zhu Y; Mefford H; Buckley MF; Bahlo M; Scheffer IE; Dinger ME; Roscioli T, 2019, 'Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection', Human Mutation, 40, pp. 374 - 379, http://dx.doi.org/10.1002/humu.23699

Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia', Journal of Genetic Counseling, 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; 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, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013

Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9

Kang C; Liang C; Ahmad KE; Gu Y; Siow SF; Colebatch JG; Whyte S; Ng K; Cremer PD; Corbett AJ; Davis RL; Roscioli T; Cowley MJ; Park JS; Sue CM; Kumar KR, 2019, 'High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia', Cerebellum, 18, pp. 137 - 146, http://dx.doi.org/10.1007/s12311-018-0969-7

Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; Adams DR; Alejandro ME; Allard P; Azamian MS; Bacino CA; Balasubramanyam A; Barseghyan H; Batzli GF; Beggs AH; Behnam B; Bican A; Bick DP; Birch CL; Bonner D; Boone BE; Bostwick BL; Briere LC; Brown DM; Brush M; Burke EA; Burrage LC; Chen S; Clark GD; Coakley TR; Cogan JD; Cooper CM; Cope H; Craigen WJ; D'Souza P; Davids M; Dayal JG; Dell'Angelica EC; Dhar SU; Dillon A; Dipple KM; Donnell-Fink LA; Dorrani N; Dorset DC; Douine ED; Draper DD; Eckstein DJ; Emrick LT; Eng CM; Eskin A; Esteves C; Estwick T; Ferreira C; Fogel BL; Friedman ND; Gahl WA; Glanton E; Godfrey RA; Goldstein DB; Gould SE; Gourdine JPF; Groden CA, 2019, 'Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay', American Journal of Human Genetics, 104, pp. 164 - 178, http://dx.doi.org/10.1016/j.ajhg.2018.11.007

Gayevskiy V; Roscioli T; Dinger M; Cowley M, 2019, 'Seave: a comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1101/258061

Gayevskiy V; Roscioli T; Dinger ME; Cowley MJ, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540

Sundercombe S; Roscioli T; Buckley MF; Zhu Y; Wang NY; Debinski C; McLean CA; Fahey M, 2019, 'An Atypical Case OF Early Neuronal Ceroid Lipofuscinosis Caused by A Previously Undocumented DNAJC5 Nonsense Mutation', Pathology, 51, pp. S33 - S33, http://dx.doi.org/10.1016/j.pathol.2018.12.076

Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Front Cover, Volume 40, Issue 10', Human Mutation, 40, http://dx.doi.org/10.1002/humu.23923

Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.', J Genet Couns, 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5

McCarthy J; Lupo PJ; Kovar E; Rech M; Bostwick B; Scott D; Kraft K; Roscioli T; Charrow J; Schrier Vergano SA; Lose E; Smiegel R; Lacassie Y; Schaaf CP, 2018, 'Schaaf-Yang syndrome overview: Report of 78 individuals', American Journal of Medical Genetics, Part A, 176, pp. 2564 - 2574, http://dx.doi.org/10.1002/ajmg.a.40650

Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39

Basilicata MF; Bruel AL; Semplicio G; Valsecchi CIK; Aktaş T; Duffourd Y; Rumpf T; Morton J; Bache I; Szymanski WG; Gilissen C; Vanakker O; Õunap K; Mittler G; van der Burgt I; El Chehadeh S; Cho MT; Pfundt R; Tan TY; Kirchhoff M; Menten B; Vergult S; Lindstrom K; Reis A; Johnson DS; Fryer A; McKay V; Fisher RB; Thauvin-Robinet C; Francis D; Roscioli T; Pajusalu S; Radtke K; Ganesh J; Brunner HG; Wilson M; Faivre L; Kalscheuer VM; Thevenon J; Akhtar A, 2018, 'De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation', Nature Genetics, 50, pp. 1442 - 1451, http://dx.doi.org/10.1038/s41588-018-0220-y

Kaur R; Meiser B; Yanes T; Young M-A; Barlow-Stewart K; Roscioli T; Smith S; James PA, 2018, 'Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk', Familial Cancer, 18, pp. 147 - 152, http://dx.doi.org/10.1007/s10689-018-0104-4

Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T, 2018, 'A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations', Genetics in Medicine, 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214

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, pp. 491, 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

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