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Journal articles

Temple SEL; Ho G; Bennetts B; Boggs K; Vidic N; Mowat D; Christodoulou J; Schultz A; Gayagay T; Roscioli T; Zhu Y; Lunke S; Armstrong D; Harrison J; Kapur N; McDonald T; Selvadurai H; Tai A; Stark Z; Jaffe A, 2022, 'The role of exome sequencing in childhood interstitial or diffuse lung disease', Orphanet Journal of Rare Diseases, vol. 17, http://dx.doi.org/10.1186/s13023-022-02508-1

Levy MA; Relator R; McConkey H; Pranckeviciene E; Kerkhof J; Barat-Houari M; Bargiacchi S; Biamino E; Palomares Bralo M; Cappuccio G; Ciolfi A; Clarke A; DuPont BR; Elting MW; Faivre L; Fee T; Ferilli M; Fletcher RS; Cherick F; Foroutan A; Friez MJ; Gervasini C; Haghshenas S; Hilton BA; Jenkins Z; Kaur S; Lewis S; Louie RJ; Maitz S; Milani D; Morgan AT; Oegema R; Østergaard E; Pallares NR; Piccione M; Plomp AS; Poulton C; Reilly J; Rius R; Robertson S; Rooney K; Rousseau J; Santen GWE; Santos-Simarro F; Schijns J; Squeo GM; John MS; Thauvin-Robinet C; Traficante G; van der Sluijs PJ; Vergano SA; Vos N; Walden KK; Azmanov D; Balci TB; Banka S; Gecz J; Henneman P; Lee JA; Mannens MMAM; Roscioli T; Siu V; Amor DJ; Baynam G; Bend EG; Boycott K; Brunetti-Pierri N; Campeau PM; Campion D; Christodoulou J; Dyment D; Esber N; Fahrner JA; Fleming MD; Genevieve D; Heron D; Husson T; Kernohan KD; McNeill A; Menke LA; Merla G; Prontera P; Rockman-Greenberg C; Schwartz C; Skinner SA; Stevenson RE; Vincent M; Vitobello A; Tartaglia M; Alders M; Tedder ML; Sadikovic B, 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation, vol. 43, pp. 1609 - 1628, http://dx.doi.org/10.1002/humu.24446

Helman G; Zarekiani P; Tromp SAM; Andrews A; Botto LD; Bonkowsky JL; Chassevent A; Giorgio E; Pippucci T; Wei S; Smith-Hicks C; Vaula G; Willemsen MAAP; Schimmel M; Vollert K; Shimizu F; Kanda T; Lynch M; Roscioli T; Taft RJ; Simons C; Bugiani M; Kuijpers TW; van der Knaap MS, 2022, 'Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy', Annals of Neurology, vol. 92, pp. 895 - 901, http://dx.doi.org/10.1002/ana.26477

Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T, 2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, vol. 30, pp. 1121 - 1131, http://dx.doi.org/10.1038/s41431-022-01162-2

Dias KR; Carlston CM; Blok LER; De Hayr L; Nawaz U; Evans CA; Bayrak-Toydemir P; Htun S; Zhu Y; Ma A; Lynch SA; Moorwood C; Stals K; Ellard S; Bainbridge MN; Friedman J; Pappas JG; Rabin R; Nowak CB; Douglas J; Wilson TE; Guillen Sacoto MJ; Mullegama SV; Palculict TB; Kirk EP; Pinner JR; Edwards M; Montanari F; Graziano C; Pippucci T; Dingmann B; Glass I; Mefford HC; Shimoji T; Suzuki T; Yamakawa K; Streff H; Schaaf CP; Slavotinek AM; Voineagu I; Carey JC; Buckley MF; Schenck A; Harvey RJ; Roscioli T, 2022, 'De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations', Genetics in Medicine, vol. 24, pp. 1952 - 1966, http://dx.doi.org/10.1016/j.gim.2022.06.001

Wong WK; Troedson C; Dale RC; Roscioli T; Field M; Palmer E; Martin EM; Kumar KR; Mohammad SS, 2022, 'Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2', Movement Disorders Clinical Practice, vol. 9, pp. S32 - S35, http://dx.doi.org/10.1002/mdc3.13538

Dhombres F; Morgan P; Chaudhari BP; Filges I; Sparks TN; Lapunzina P; Roscioli T; Agarwal U; Aggarwal S; Beneteau C; Cacheiro P; Carmody LC; Collardeau-Frachon S; Dempsey EA; Dufke A; Duyzend MH; el Ghosh M; Giordano JL; Glad R; Grinfelde I; Iliescu DG; Ladewig MS; Munoz-Torres MC; Pollazzon M; Radio FC; Rodo C; Silva RG; Smedley D; Sundaramurthi JC; Toro S; Valenzuela I; Vasilevsky NA; Wapner RJ; Zemet R; Haendel MA; Robinson PN, 2022, 'Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 190, pp. 231 - 242, http://dx.doi.org/10.1002/ajmg.c.31989

Stephenson SEM; Costain G; Blok LER; Silk MA; Nguyen TB; Dong X; Alhuzaimi DE; Dowling JJ; Walker S; Amburgey K; Hayeems RZ; Rodan LH; Schwartz MA; Picker J; Lynch SA; Gupta A; Rasmussen KJ; Schimmenti LA; Klee EW; Niu Z; Agre KE; Chilton I; Chung WK; Revah-Politi A; Au PYB; Griffith C; Racobaldo M; Raas-Rothschild A; Ben Zeev B; Barel O; Moutton S; Morice-Picard F; Carmignac V; Cornaton J; Marle N; Devinsky O; Stimach C; Wechsler SB; Hainline BE; Sapp K; Willems M; Bruel AL; Dias KR; Evans CA; Roscioli T; Sachdev R; Temple SEL; Zhu Y; Baker JJ; Scheffer IE; Gardiner FJ; Schneider AL; Muir AM; Mefford HC; Crunk A; Heise EM; Millan F; Monaghan KG; Person R; Rhodes L; Richards S; Wentzensen IM; Cogné B; Isidor B; Nizon M; Vincent M; Besnard T; Piton A; Marcelis C; Kato K; Koyama N; Ogi T; Goh ESY; Richmond C; Amor DJ; Boyce JO; Morgan AT; Hildebrand MS; Kaspi A; Bahlo M; Friðriksdóttir R; Katrínardóttir H; Sulem P; Stefánsson K; Björnsson HT; Mandelstam S; Morleo M; Mariani M; Scala M; Accogli A; Torella A; Capra V; Wallis M; Jansen S; Weisfisz Q; de Haan H; Sadedin S; Lim SC; White SM; Ascher DB, 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American Journal of Human Genetics, vol. 109, pp. 601 - 617, http://dx.doi.org/10.1016/j.ajhg.2022.03.002

Wong WK; Troedson C; Damme M; Goetti R; Temple SEL; Schöls L; Balousha G; Prelog K; Buckley M; Roscioli T; Hengel H; Mohammad SS, 2022, 'BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation', Movement Disorders, vol. 37, pp. 870 - 872, http://dx.doi.org/10.1002/mds.28915

Yuen M; Worgan L; Iwanski J; Pappas CT; Joshi H; Churko JM; Arbuckle S; Kirk EP; Zhu Y; Roscioli T; Gregorio CC; Cooper ST, 2022, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', European Journal of Human Genetics, vol. 30, pp. 450 - 457, http://dx.doi.org/10.1038/s41431-022-01043-8

Levy MA; McConkey H; Kerkhof J; Barat-Houari M; Bargiacchi S; Biamino E; Bralo MP; Cappuccio G; Ciolfi A; Clarke A; DuPont BR; Elting MW; Faivre L; Fee T; Fletcher RS; Cherik F; Foroutan A; Friez MJ; Gervasini C; Haghshenas S; Hilton BA; Jenkins Z; Kaur S; Lewis S; Louie RJ; Maitz S; Milani D; Morgan AT; Oegema R; Østergaard E; Pallares NR; Piccione M; Pizzi S; Plomp AS; Poulton C; Reilly J; Relator R; Rius R; Robertson S; Rooney K; Rousseau J; Santen GWE; Santos-Simarro F; Schijns J; Squeo GM; St John M; Thauvin-Robinet C; Traficante G; van der Sluijs PJ; Vergano SA; Vos N; Walden KK; Azmanov D; Balci T; Banka S; Gecz J; Henneman P; Lee JA; Mannens MMAM; Roscioli T; Siu V; Amor DJ; Baynam G; Bend EG; Boycott K; Brunetti-Pierri N; Campeau PM; Christodoulou J; Dyment D; Esber N; Fahrner JA; Fleming MD; Genevieve D; Kerrnohan KD; McNeill A; Menke LA; Merla G; Prontera P; Rockman-Greenberg C; Schwartz C; Skinner SA; Stevenson RE; Vitobello A; Tartaglia M; Alders M; Tedder ML; Sadikovic B, 2022, 'Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.', HGG Adv, vol. 3, pp. 100075, http://dx.doi.org/10.1016/j.xhgg.2021.100075

Janssen BDE; van den Boogaard MJH; Lichtenbelt K; Seaby EG; Stals K; Ellard S; Newbury-Ecob R; Dixit A; Roht L; Pajusalu S; Õunap K; Firth HV; Buckley M; Wilson M; Roscioli T; Tidwell T; Mao R; Ennis S; Holwerda SJ; van Gassen K; van Jaarsveld RH, 2022, 'De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder', Human Mutation, http://dx.doi.org/10.1002/humu.24444

Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, vol. 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001

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, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, vol. 13, http://dx.doi.org/10.1186/s13073-021-00841-x

Yuen M; Worgan L; Iwanski J; Pappas C; Joshi H; Churko J; Arbuckle S; Kirk E; Roscioli T; Gregorio C; Cooper S, 2021, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', NEUROMUSCULAR DISORDERS, vol. 31, pp. S142 - S142, http://dx.doi.org/10.1016/j.nmd.2021.07.328

Vavassori S; Chou J; Faletti LE; Haunerdinger V; Opitz L; Joset P; Fraser CJ; Prader S; Gao X; Schuch LA; Wagner M; Hoefele J; Maccari ME; Zhu Y; Elakis G; Gabbett MT; Forstner M; Omran H; Kaiser T; Kessler C; Olbrich H; Frosk P; Almutairi A; Platt CD; Elkins M; Weeks S; Rubin T; Planas R; Marchetti T; Koovely D; Klämbt V; Soliman NA; von Hardenberg S; Klemann C; Baumann U; Lenz D; Klein-Franke A; Schwemmle M; Huber M; Sturm E; Hartleif S; Häffner K; Gimpel C; Brotschi B; Laube G; Güngör T; Buckley MF; Kottke R; Staufner C; Hildebrandt F; Reu-Hofer S; Moll S; Weber A; Kaur H; Ehl S; Hiller S; Geha R; Roscioli T; Griese M; Pachlopnik Schmid J, 2021, 'Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency', Journal of Allergy and Clinical Immunology, vol. 148, pp. 381 - 393, http://dx.doi.org/10.1016/j.jaci.2021.03.045

Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T, 2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, vol. 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007

Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, vol. 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207

Li D; March ME; Fortugno P; Cox LL; Matsuoka LS; Monetta R; Seiler C; Pyle LC; Bedoukian EC; Sánchez-Soler MJ; Caluseriu O; Grand K; Tam A; Aycinena ARP; Camerota L; Guo Y; Sleiman P; Callewaert B; Kumps C; Dheedene A; Buckley M; Kirk EP; Turner A; Kamien B; Patel C; Wilson M; Roscioli T; Christodoulou J; Cox TC; Zackai EH; Brancati F; Hakonarson H; Bhoj EJ, 2021, 'Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome', Human Genetics, vol. 140, pp. 1061 - 1076, http://dx.doi.org/10.1007/s00439-021-02274-3

Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, vol. 96, pp. e1770 - e1782, http://dx.doi.org/10.1212/WNL.0000000000011655

Kirk EP; Ong R; Boggs K; Hardy T; Righetti S; Kamien B; Roscioli T; Amor DJ; Bakshi M; Chung CWT; Colley A; Jamieson RV; Liebelt J; Ma A; Pachter N; Rajagopalan S; Ravine A; Wilson M; Caruana J; Casella R; Davis M; Edwards S; Archibald A; McGaughran J; Newson AJ; Laing NG; Delatycki MB, 2021, 'Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)', European Journal of Human Genetics, vol. 29, pp. 79 - 87, http://dx.doi.org/10.1038/s41431-020-0685-x

Buckley MF; Roscioli T, 2021, 'Exomes in prenatal testing: an introduction to the pregen study', Pathology, vol. 53, pp. S10 - S10, http://dx.doi.org/10.1016/j.pathol.2021.05.039

Lessel D; Zeitler DM; Reijnders MRF; Kazantsev A; Hassani Nia F; Bartholomäus A; Martens V; Bruckmann A; Graus V; McConkie-Rosell A; McDonald M; Lozic B; Tan ES; Gerkes E; Johannsen J; Denecke J; Telegrafi A; Zonneveld-Huijssoon E; Lemmink HH; Cham BWM; Kovacevic T; Ramsdell L; Foss K; Le Duc D; Mitter D; Syrbe S; Merkenschlager A; Sinnema M; Panis B; Lazier J; Osmond M; Hartley T; Mortreux J; Busa T; Missirian C; Prasun P; Lüttgen S; Mannucci I; Lessel I; Schob C; Kindler S; Pappas J; Rabin R; Willemsen M; Gardeitchik T; Löhner K; Rump P; Dias KR; Evans CA; Andrews PI; Roscioli T; Brunner HG; Chijiwa C; Lewis MES; Jamra RA; Dyment DA; Boycott KM; Stegmann APA; Kubisch C; Tan EC; Mirzaa GM; McWalter K; Kleefstra T; Pfundt R; Ignatova Z; Meister G; Kreienkamp HJ, 2020, 'Germline AGO2 mutations impair RNA interference and human neurological development', Nature Communications, vol. 11, http://dx.doi.org/10.1038/s41467-020-19572-5

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', Obstetrical and Gynecological Survey, vol. 75, pp. 662 - 664, http://dx.doi.org/10.1097/01.ogx.0000722040.32795.04

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, 'Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)', Human Mutation, vol. 41, pp. 1761 - 1774, http://dx.doi.org/10.1002/humu.24079

Justice CM; Cuellar A; Bala K; Sabourin JA; Cunningham ML; Crawford K; Phipps JM; Zhou Y; Cilliers D; Byren JC; Johnson D; Wall SA; Morton JEV; Noons P; Sweeney E; Weber A; Rees KEM; Wilson LC; Simeonov E; Kaneva R; Yaneva N; Georgiev K; Bussarsky A; Senders C; Zwienenberg M; Boggan J; Roscioli T; Tamburrini G; Barba M; Conway K; Sheffield VC; Brody L; Mills JL; Kay D; Sicko RJ; Langlois PH; Tittle RK; Botto LD; Jenkins MM; LaSalle JM; Lattanzi W; Wilkie AOM; Wilson AF; Romitti PA; Boyadjiev SA, 2020, 'A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis', Human Genetics, vol. 139, pp. 1077 - 1090, http://dx.doi.org/10.1007/s00439-020-02157-z

Riley LG; Rudinger-Thirion J; Frugier M; Wilson M; Luig M; Alahakoon TI; Nixon CY; Kirk EP; Roscioli T; Lunke S; Stark Z; Wierenga KJ; Palle S; Walsh M; Higgs E; Arbuckle S; Thirukeswaran S; Compton AG; Thorburn DR; Christodoulou J, 2020, 'The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy', Human Mutation, vol. 41, pp. 1425 - 1434, http://dx.doi.org/10.1002/humu.24050

LeBlanc S; Naveen D; Haan E; Barnett C; Rawlings L; Roscioli T; Poplawski N, 2020, 'CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk', American Journal of Medical Genetics, Part A, vol. 182, pp. 1780 - 1784, http://dx.doi.org/10.1002/ajmg.a.61601

Doble B; Schofield D; Evans CA; Groza T; Mattick JS; Field M; Roscioli T, 2020, 'Impacts of genomics on the health and social costs of intellectual disability', Journal of Medical Genetics, vol. 57, pp. 479 - 486, http://dx.doi.org/10.1136/jmedgenet-2019-106445

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, vol. 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, vol. 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, vol. 11, 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540


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