By Professor Tony Roscioli

Journal articles

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, 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, 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, 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, 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, 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, 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, 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, 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, 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, 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 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

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