By Dr Emily Cathlin Oates

Journal articles

Marchant RG; Bryen SJ; Bahlo M; Cairns A; Chao KR; Corbett A; Davis MR; Ganesh VS; Ghaoui R; Jones KJ; Kornberg AJ; Lek M; Liang C; MacArthur DG; Oates EC; O'Donnell-Luria A; O'Grady GL; Osei-Owusu IA; Rafehi H; Reddel SW; Roxburgh RH; Ryan MM; Sandaradura SA; Scott LW; Valkanas E; Weisburd B; Young H; Evesson FJ; Waddell LB; Cooper ST, 2024, 'Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone', Annals of Clinical and Translational Neurology, 11, pp. 1250 - 1266, http://dx.doi.org/10.1002/acn3.52041

Töpf A; Cox D; Zaharieva IT; Di Leo V; Sarparanta J; Jonson PH; Sealy IM; Smolnikov A; White RJ; Vihola A; Savarese M; Merteroglu M; Wali N; Laricchia KM; Venturini C; Vroling B; Stenton SL; Cummings BB; Harris E; Marini-Bettolo C; Diaz-Manera J; Henderson M; Barresi R; Duff J; England EM; Patrick J; Al-Husayni S; Biancalana V; Beggs AH; Bodi I; Bommireddipalli S; Bönnemann CG; Cairns A; Chiew MT; Claeys KG; Cooper ST; Davis MR; Donkervoort S; Erasmus CE; Fassad MR; Genetti CA; Grosmann C; Jungbluth H; Kamsteeg EJ; Lornage X; Löscher WN; Malfatti E; Manzur A; Martí P; Mongini TE; Muelas N; Nishikawa A; O’Donnell-Luria A; Ogonuki N; O’Grady GL; O’Heir E; Paquay S; Phadke R; Pletcher BA; Romero NB; Schouten M; Shah S; Smuts I; Sznajer Y; Tasca G; Taylor RW; Tuite A; Van den Bergh P; VanNoy G; Voermans NC; Wanschitz JV; Wraige E; Yoshimura K; Oates EC; Nakagawa O; Nishino I; Laporte J; Vilchez JJ; MacArthur DG; Sarkozy A; Cordell HJ; Udd B; Busch-Nentwich EM; Muntoni F; Straub V, 2024, 'Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy', Nature Genetics, 56, pp. 395 - 407, http://dx.doi.org/10.1038/s41588-023-01651-0

Sullivan PJ; Gayevskiy V; Davis RL; Wong M; Mayoh C; Mallawaarachchi A; Hort Y; McCabe MJ; Beecroft S; Jackson MR; Arts P; Dubowsky A; Laing N; Dinger ME; Scott HS; Oates E; Pinese M; Cowley MJ, 2023, 'Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications', Genome Biology, 24, http://dx.doi.org/10.1186/s13059-023-02936-7

Johnson R; Otway R; Chin E; Horvat C; Ohanian M; Wilcox JAL; Su Z; Prestes P; Smolnikov A; Soka M; Guo G; Rath E; Chakravorty S; Chrzanowski L; Hayward CS; Keogh AM; MacDonald PS; Giannoulatou E; Chang ACY; Oates EC; Charchar F; Seidman JG; Seidman CE; Hegde M; Fatkin D, 2023, 'DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies', Circulation: Genomic and Precision Medicine, 16, pp. 421 - 430, http://dx.doi.org/10.1161/CIRCGEN.123.004221

Dofash LNH; Monahan GV; Servián-Morilla E; Rivas E; Faiz F; Sullivan P; Oates E; Clayton J; Taylor RL; Davis MR; Beilharz T; Laing NG; Cabrera-Serrano M; Ravenscroft G, 2023, 'A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism', Human Molecular Genetics, 32, pp. 1127 - 1136, http://dx.doi.org/10.1093/hmg/ddac272

Katz M; Waddell LB; Yuen M; Bryen SJ; Oates E; Garton FC; Robertson T; Henderson RD; Cooper ST; McCombe PA, 2023, 'Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant', Frontiers in Neurology, 14, http://dx.doi.org/10.3389/fneur.2023.1055639

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, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001

Dofash L; Monahan G; Servián-Morilla E; Rivas E; Faiz F; Sullivan P; Oates E; Clayton J; Taylor R; Davis M; Beilharz T; Laing N; Cabrera-Serrano M; Ravenscroft G, 2022, 'P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8', Neuromuscular Disorders, 32, pp. S45 - S45, http://dx.doi.org/10.1016/j.nmd.2022.07.015

Dworschak GC; Punetha J; Kalanithy JC; Mingardo E; Erdem HB; Akdemir ZC; Karaca E; Mitani T; Marafi D; Fatih JM; Jhangiani SN; Hunter JV; Dakal TC; Dhabhai B; Dabbagh O; Alsaif HS; Alkuraya FS; Maroofian R; Houlden H; Efthymiou S; Dominik N; Salpietro V; Sultan T; Haider S; Bibi F; Thiele H; Hoefele J; Riedhammer KM; Wagner M; Guella I; Demos M; Keren B; Buratti J; Charles P; Nava C; Héron D; Heide S; Valkanas E; Waddell LB; Jones KJ; Oates EC; Cooper ST; MacArthur D; Syrbe S; Ziegler A; Platzer K; Okur V; Chung WK; O’Shea SA; Alcalay R; Fahn S; Mark PR; Guerrini R; Vetro A; Hudson B; Schnur RE; Hoganson GE; Burton JE; McEntagart M; Lindenberg T; Yilmaz Ö; Odermatt B; Pehlivan D; Posey JE; Lupski JR; Reutter H, 2021, 'Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies', Genetics in Medicine, 23, pp. 1715 - 1725, http://dx.doi.org/10.1038/s41436-021-01196-9

Rees M; Nikoopour R; Fukuzawa A; Kho AL; Fernandez-Garcia MA; Wraige E; Bodi I; Deshpande C; Özdemir Ö; Daimagüler HS; Pfuhl M; Holt M; Brandmeier B; Grover S; Fluss J; Longman C; Farrugia ME; Matthews E; Hanna M; Muntoni F; Sarkozy A; Phadke R; Quinlivan R; Oates EC; Schröder R; Thiel C; Reimann J; Voermans N; Erasmus C; Kamsteeg EJ; Konersman C; Grosmann C; McKee S; Tirupathi S; Moore SA; Wilichowski E; Hobbiebrunken E; Dekomien G; Richard I; Van den Bergh P; Domínguez-González C; Cirak S; Ferreiro A; Jungbluth H; Gautel M, 2021, 'Making sense of missense variants in TTN-related congenital myopathies', Acta Neuropathologica, 141, pp. 431 - 453, http://dx.doi.org/10.1007/s00401-020-02257-0

Waddell LB; Bryen SJ; Cummings BB; Bournazos A; Evesson FJ; Joshi H; Marshall JL; Tukiainen T; Valkanas E; Weisburd B; Sadedin S; Davis MR; Faiz F; Gooding R; Sandaradura SA; O'Grady GL; Tchan MC; Mowat DR; Oates EC; Farrar MA; Sampaio H; Ma A; Neas K; Wang MX; Charlton A; Chan C; Kenwright DN; Graf N; Arbuckle S; Clarke NF; MacArthur DG; Jones KJ; Lek M; Cooper ST, 2021, 'WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase', Neurology: Genetics, 7, http://dx.doi.org/10.1212/NXG.0000000000000554

Bryen SJ; Oates EC; Evesson FJ; Lu JK; Waddell LB; Joshi H; Ryan MM; Cummings BB; McLean CA; MacArthur DG; Kornberg AJ; Cooper ST, 2021, 'Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy', European Journal of Human Genetics, 29, pp. 61 - 66, http://dx.doi.org/10.1038/s41431-020-00715-7

Smolnikov A; Oates E; Wilkins M, 2021, 'APPLICATION OF NEXT GENERATION TECHNOLOGIES', Neuromuscular Disorders, 31, pp. S145 - S145, http://dx.doi.org/10.1016/j.nmd.2021.07.338

Dofash L; Faiz F; Servián-Morilla E; Rivas E; Sullivan P; Oates E; Clayton J; Taylor R; Davis M; Laing N; Cabrera-Serrano M; Ravenscroft G, 2021, 'CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES', Neuromuscular Disorders, 31, pp. S60 - S60, http://dx.doi.org/10.1016/j.nmd.2021.07.059

Savarese M; Vihola A; Oates EC; Barresi R; Fiorillo C; Tasca G; Jokela M; Sarkozy A; Luo S; Díaz-Manera J; Ehrstedt C; Rojas-García R; Sáenz A; Muelas N; Lonardo F; Fodstad H; Qureshi T; Johari M; Välipakka S; Luque H; Petiot P; de Munain AL; Pane M; Mercuri E; Torella A; Nigro V; Astrea G; Santorelli FM; Bruno C; Kuntzer T; Illa I; Vílchez JJ; Julien C; Ferreiro A; Malandrini A; Zhao CB; Casar-Borota O; Davis M; Muntoni F; Hackman P; Udd B, 2020, 'Genotype–phenotype correlations in recessive titinopathies', Genetics in Medicine, 22, pp. 2029 - 2040, http://dx.doi.org/10.1038/s41436-020-0914-2

Coppens S; Deconinck N; Phadke R; Sewry C; Kadhim H; Tay C; Bakshi M; de Silva D; Thomas N; Park S; French C; Ward M; Arens Y; Manzur A; Ravenscroft G; Laing N; Kamsteeg E; Davis M; Muntoni F; Oates E, 2019, 'Congenital titinopathy as a cause of severe to profound congenital weakness and early death', NEUROMUSCULAR DISORDERS, 29, pp. S137 - S137, http://dx.doi.org/10.1016/j.nmd.2019.06.355

Beecroft S; van de Locht M; de Winter J; Ottenheijm C; Sewry C; Mohammed S; Ryan M; Woodcock I; Sanders L; Gooding R; Davis M; Oates E; Laing N; Ravenscroft G; McLean C; Jungbluth H, 2019, 'Recessive MYH7-related myopathy in two families', NEUROMUSCULAR DISORDERS, 29, pp. S80 - S80, http://dx.doi.org/10.1016/j.nmd.2019.06.164

Böhm J; Malfatti E; Oates E; Jones K; Brochier G; Boland A; Deleuze JF; Romero NB; Laporte J, 2019, 'Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures', Journal of Medical Genetics, 56, pp. 617 - 621, http://dx.doi.org/10.1136/jmedgenet-2018-105390

Beecroft SJ; van de Locht M; de Winter JM; Ottenheijm CA; Sewry CA; Mohammed S; Ryan MM; Woodcock IR; Sanders L; Gooding R; Davis MR; Oates EC; Laing NG; Ravenscroft G; McLean CA; Jungbluth H, 2019, 'Recessive MYH7-related myopathy in two families', Neuromuscular Disorders, 29, pp. 456 - 467, http://dx.doi.org/10.1016/j.nmd.2019.04.002

Phadke R; Sarkozy A; Oates E; Mein R; Bodi I; Feng L; Manzur A; Thomas N; Illingworth M; Mazanti I; Ellard S; Sewry C; Gautel M; Jungbluth H; Muntoni F, 2019, 'P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies', Neuromuscular Disorders, 29, pp. S135 - S135, http://dx.doi.org/10.1016/j.nmd.2019.06.350

Sarkozy A; Mein R; Oates E; Zaharieva I; Jungbluth H; Manzur A; Robb S; Munot P; Feng L; Sewry C; Phadke R; Muntoni F, 2019, 'P.238The Dubowitz neuromuscular centre experience in TTN gene analysis in UK patients with congenital myopathies', Neuromuscular Disorders, 29, pp. S136 - S136, http://dx.doi.org/10.1016/j.nmd.2019.06.352

Johnson R; Peters S; Ingles J; Correnti G; Ingrey A; Mountain H; Zentner D; Thompson T; Oates E; Ronan A; Pachter N; Haan E; Van Spaendonck-Zwarts K; Semsarian C; McGaughran J; Atherton J; James P; Fatkin D, 2019, 'Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective', Heart, Lung and Circulation, 28, pp. S140 - S140, http://dx.doi.org/10.1016/j.hlc.2019.06.019

Oates E; Jones K; Coppens S; Deconinck N; Ravenscroft G; Luk H; Bakshi M; Pinner J; Foulds N; Illingworth M; Thomas N; Ellard S; Mazanti I; Cooper S; Muntoni F; Davis M; Laing N, 2018, 'Congenital titinopathy: severe and atypical presentations', NEUROMUSCULAR DISORDERS, 28, pp. S104 - S104, http://dx.doi.org/10.1016/j.nmd.2018.06.287

Oates E; Jones K; Donkervoort S; Charlton A; Brammah S; Smith J; Ware J; Yau K; Swanson L; Whiffin N; Peduto A; Bournazos A; Waddell L; Farrar M; Sampaio H; Teoh H; Lamont P; Mowat D; Fitzsimmons R; Corbett A; Ryan M; O'Grady G; Sandaradura S; Ghaoui R; Joshi H; Marshall J; Nolan M; Kaur S; Punetha J; Topf A; Harris E; Bakshi M; Genetti C; Marttila M; Werkauff U; Streichenberger N; Pestronk A; Mazanti I; Pinner J; Vuillerot C; Grosmann C; Camacho A; Mohassel P; Leach M; Foley A; Bharucha-Goeber D; Collins J; Connolly A; Gilbreath H; Iannaccone S; Castro D; Cummings B; Webster R; Lazaro L; Vissing J; Coppens S; Deconinck N; Luk H; Thomas N; Foulds N; Illingworth M; Ellard S; McLean C; Phadke R; Ravenscroft G; Witting N; Hackman P; Clarke N; Lek M; Beggs A; Bonnemann C; MacArthur D; Granzier H; Davis M; Laing N, 2018, 'Congenital titinopathy: comprehensive characterisation & pathogenic insights', Annals or Neurology, 83, pp. 1105 - 1124, http://dx.doi.org/10.1002/ana.25241

Böhm J; Malfatti E; Oates E; Jones K; Romero N; Laporte J, 2018, 'CONGENITAL MYOPATHIES: GENERAL AND RYR1', Neuromuscular Disorders, 28, pp. S44 - S45, http://dx.doi.org/10.1016/j.nmd.2018.06.074

Cummings BB; Marshall JL; Tukiainen T; Lek M; Donkervoort S; Foley AR; Bolduc V; Waddell LB; Sandaradura SA; O'Grady GL; Estrella E; Reddy HM; Zhao F; Weisburd B; Karczewski KJ; O'Donnell-Luria AH; Birnbaum D; Sarkozy A; Hu Y; Gonorazky H; Claeys K; Joshi H; Bournazos A; Oates EC; Ghaoui R; Davis MR; Laing NG; Topf A; Kang PB; Beggs AH; North KN; Straub V; Dowling JJ; Muntoni F; Clarke NF; Cooper ST; Bönnemann CG; MacArthur DG; Ardlie KG; Getz G; Gelfand ET; Segrè AV; Aguet F; Sullivan TJ; Li X; Nedzel JL; Trowbridge CA; Hadley K; Huang KH; Noble MS; Nguyen DT; Nobel AB; Wright FA; Shabalin AA; Palowitch JJ; Zhou YH; Dermitzakis ET; McCarthy MI; Payne AJ; Lappalainen T; Castel S; Kim-Hellmuth S; Mohammadi P; Battle A; Parsana P; Mostafavi S; Brown A; Ongen H; Delaneau O; Panousis N; Howald C; Van De Bunt M; Guigo R; Monlong J; Reverter F; Garrido D; Munoz M; Bogu G; Sodaei R; Papasaikas P; Ndungu AW; Montgomery SB; Li X; Fresard L; Davis JR; Tsang EK; Zappala Z; Abell NS; Gloudemans MJ; Liu B; Damani FN; Saha A; Kim Y; Strober BJ; He Y; Stephens M; Pritchard JK; Wen X; Urbut S; Cox NJ, 2017, 'Improving genetic diagnosis in Mendelian disease with transcriptome sequencing', Science Translational Medicine, 9, http://dx.doi.org/10.1126/scitranslmed.aal5209

Oates EC; Yau KS; Jones K; Smith JE; Donkervoort S; Swanson L; Charlton A; Brammah S; Peduto AJ; Richard I; Ferreiro A; Hoffman E; Bushby K; Straub V; Udd B; Lek M; MacArthur DG; Granzier H; Beggs A; Bönnemann CG; North KN; Davis MR; Laing NG, 2017, 'Clinical characterisation of a large international congenital titinopathy cohort', Neuromuscular Disorders, 27, pp. S37 - S37, http://dx.doi.org/10.1016/s0960-8966(17)30328-0

Oates E; Yau K; Donkervoort S; Swanson L; Brammah S; Topf A; Richard I; Ferreiro A; Hoffman E; Bushby K; Straub V; Udd B; Lek M; MacArthur D; Granzier H; Beggs A; Bonnemann C; North K; Davis M; Laing N, 2016, 'Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement', NEUROMUSCULAR DISORDERS, 26, pp. S89 - S89, http://dx.doi.org/10.1016/j.nmd.2016.06.018

O'Grady GL; Lek M; Lamande SR; Waddell L; Oates EC; Punetha J; Ghaoui R; Sandaradura SA; Best H; Kaur S; Davis M; Laing NG; Muntoni F; Hoffman E; MacArthur DG; Clarke NF; Cooper S; North K, 2016, 'Diagnosis and etiology of congenital muscular dystrophy: We are halfway there', Annals of Neurology, 80, pp. 101 - 111, http://dx.doi.org/10.1002/ana.24687

Zaharieva IT; Thor MG; Oates EC; Van Karnebeek C; Hendson G; Blom E; Witting N; Rasmussen M; Gabbett MT; Ravenscroft G; Sframeli M; Suetterlin K; Sarkozy A; D'Argenzio L; Hartley L; Matthews E; Pitt M; Vissing J; Ballegaard M; Krarup C; Slørdahl A; Halvorsen H; Ye XC; Zhang LH; Løkken N; Werlauff U; Abdelsayed M; Davis MR; Feng L; Phadke R; Sewry CA; Morgan JE; Laing NG; Vallance H; Ruben P; Hanna MG; Lewis S; Kamsteeg EJ; Männikkö R; Muntoni F, 2016, 'Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy', Brain, 139, pp. 674 - 691, http://dx.doi.org/10.1093/brain/awv352

Punetha J; Kesari A; Uapinyoying P; Giri M; Clarke NF; Waddell LB; North KN; Ghaoui R; O'Grady GL; Oates EC; Sandaradura SA; Bönnemann CG; Donkervoort S; Plotz PH; Smith EC; Tesi-Rocha C; Bertorini TE; Tarnopolsky MA; Reitter B; Hausmanowa-Petrusewicz I; Hoffman EP, 2016, 'Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases', Journal of Neuromuscular Diseases, 3, pp. 209 - 225, http://dx.doi.org/10.3233/JND-160151

Rossor AM; Oates EC; Salter HK; Liu Y; Murphy SM; Schule R; Gonzales MA; Scoto M; Phadke R; Sewry CA; Houlden H; Jordanova A; Tournev I; Chamova T; Litvinenko I; Zuchner S; Herrmann DN; Blake J; Sowden JE; Acsadi G; Rodriguez ML; Menezes MP; Clarke NF; Auer Grumbach M; Bullock SL; Muntoni F; Reilly MM; North KN, 2015, 'Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy', Brain, 138, pp. e392, http://dx.doi.org/10.1093/brain/awv160

Zaharieva I; Thor M; Oates E; Karnebeek C; Kamsteeg E; Hartley L; Blom E; Witting N; Rasmussen M; Gabbett M; Ravenscroft G; Hanna M; Ruben P; Lewis S; Mannikko R; Muntoni F, 2015, 'Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy', NEUROMUSCULAR DISORDERS, 25, pp. S275 - S276, http://dx.doi.org/10.1016/j.nmd.2015.06.324

O'Grady GL; Best HA; Oates EC; Kaur S; Charlton A; Brammah S; Punetha J; Kesari A; North KN; Ilkovski B; Hoffman EP; Clarke NF, 2015, 'Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine', European Journal of Human Genetics, 23, pp. 883 - 886, http://dx.doi.org/10.1038/ejhg.2014.169

Rossor AM; Oates EC; Salter HK; Liu Y; Murphy SM; Schule R; Gonzalez MA; Scoto M; Phadke R; Sewry CA; Houlden H; Jordanova A; Tournev I; Chamova T; Litvinenko I; Zuchner S; Herrmann DN; Blake J; Sowden JE; Acsadi G; Rodriguez ML; Menezes MP; Clarke NF; Grumbach MA; Bullock SL; Muntoni F; Reilly MM; North KN, 2015, 'Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2', Brain, 138, pp. 293 - 310, http://dx.doi.org/10.1093/brain/awu356

Payne JM; Pickering T; Porter M; Oates EC; Walia N; Prelog K; North KN, 2014, 'Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study', American Journal of Medical Genetics, Part A, 164, pp. 661 - 665, http://dx.doi.org/10.1002/ajmg.a.36338

Oates EC; Rossor AM; Hafezparast M; Gonzalez M; Speziani F; Macarthur DG; Lek M; Cottenie E; Scoto M; Foley AR; Hurles M; Houlden H; Greensmith L; Auer-Grumbach M; Pieber TR; Strom TM; Schule R; Herrmann DN; Sowden JE; Acsadi G; Menezes MP; Clarke NF; Züchner S; Muntoni F; North KN; Reilly MM, 2013, 'Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia', American Journal of Human Genetics, 92, pp. 965 - 973, http://dx.doi.org/10.1016/j.ajhg.2013.04.018

Gibbs EM; Clarke NF; Rose K; Oates EC; Webster R; Feldman EL; Dowling JJ, 2013, 'Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy', Journal of Molecular Medicine, 91, pp. 727 - 737, http://dx.doi.org/10.1007/s00109-013-0994-4

Oates EC; Payne JM; Foster SL; Clarke NF; North KN, 2013, 'Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge', American Journal of Medical Genetics, Part A, 161, pp. 659 - 666, http://dx.doi.org/10.1002/ajmg.a.35840

Oates EC; Reddel S; Rodriguez ML; Gandolfo LC; Bahlo M; Hawke SH; Lamandé SR; Clarke NF; North KN, 2012, 'Autosomal dominant congenital spinal muscular atrophy: A true form of spinal muscular atrophy caused by early loss of anterior horn cells', Brain, 135, pp. 1714 - 1723, http://dx.doi.org/10.1093/brain/aws108

Kouwenhoven EN; va Heeringen SJ; Tena JJ; Oti M; Dutilh BE; Alonso ME; de la Elisa CM; Smeenk L; Rinne T; Parsaulian L; Bolat E; Jurgelenaite R; Huynen MA; Hoischen A; Veltman JA; Brunner HG; Roscioli T; Oates E; Wilson M; Manzanares M; José LGS; Stunnenberg HG; Lohrum M; van Bokhoven H; Zhou H, 2010, 'Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 shfm1 locus', PLoS Genetics, 6, pp. e1001065, http://dx.doi.org/10.1371/journal.pgen.1001065

Conference Papers

Rees M; Fukuzawa A; Nikoopour R; Kho A; Qi J; Fernandez-Garcia M; Wraige E; Cirak S; Pfuhl M; Fluss J; Muntoni F; Sarkozy A; Schroeder R; Voermans N; Wilichowski E; Matthews E; Oates E; Ferreiro A; Jungbluth H; Gautel M, 2019, 'Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, DENMARK, Copenhagen, pp. S135 - S135, presented at 24th International Annual Congress of the World-Muscle-Society (WMS), DENMARK, Copenhagen, 01 October 2019 - 05 October 2019, http://dx.doi.org/10.1016/j.nmd.2019.06.348

Donkervoort S; Dowling JJ; Laporte J; MacArthur D; Bönnemann CG; Beggs A; Bonne G; Dubowitz V; Goldberg M; Goldberg M; Herault Y; Karakaya M; Lennox A; Malfatti E; Mathews K; Mora M; Nishino I; Oates E; Rutkowski A; Spring M; Voermans N; Warman J; Willer T; Xiong H; Zaharieva I; Zanoteli E, 2019, '214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015', in Neuromuscular Disorders, pp. 644 - 650, http://dx.doi.org/10.1016/j.nmd.2019.07.002

Oates E; Yau K; Jones K; Smith J; Cummings B; Farrar M; Cooper S; Lek M; Hoffman E; Straub V; Ferreiro A; Udd B; Beggs A; Bonnemann C; North K; MacArthur D; Granzier H; Muntoni F; Davis M; Laing N, 2017, 'Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, FRANCE, Saint Malo, pp. S237 - S238, presented at 22nd International Annual Congress of the World-Muscle-Society (WMS), FRANCE, Saint Malo, 03 October 2017 - 07 October 2017, http://dx.doi.org/10.1016/j.nmd.2017.06.513

Oates EC; Yau KS; Jones K; Smith JE; Donkervoort S; Swanson L; Charlton A; Brammah S; Peduto AJ; Richard I; Ferreiro A; Man EH; Bushby K; Straub V; Udd B; Lek M; MacArthur DG; Granzier H; Beggs A; Bonnemann CG; North KN; Davis MR; Laing NG, 2017, 'Clinical characterisation of a large international congenital titinopathy cohort', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S37 - S37, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000110&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Zaharieva I; Sarkozy A; Manzur A; Munot P; O'Grady G; Rendu J; Amthor H; Servais L; Malfatti E; Dixon J; Poke G; Donkervoort S; Foley AR; Neto OLA; Davis MR; Urtizberea JA; Bastaki L; Romero NB; Oates EC; Holmes C; Williams G; Sframeli M; Yum S; Medne L; Roy SQ; Faure J; Feng L; Morgan JE; Bonnemann CG; Phadke R; Sewry CA; Treves S; Muntoni F, 2017, 'STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S39 - S39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558785000116&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Zaharieva IT; Sarkozy A; Manzur A; O'Grady G; Sharpe J; Dixon J; Poke G; Oates EC; Colombo I; Sframeli M; Feng L; Phadke R; Sewry CA; Duchen M; Morgan JE; Treves S; Muntoni F, 2016, 'STAC3 p.Trp284Ser, a hotspot mutation for congenital myopathy with distinctive dysmorphic features and malignant hyperthermia', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, pp. S39 - S39, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000558787300127&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Oates EC; Yau KS; Charlton A; Brammah S; Farrar MA; Sampaio H; Lamont PL; Mowat D; Fitzsimons RB; Corbett A; Ryan MM; Teoh HL; O'Grady GL; Ghaoui R; Kaur S; Lek M; North KN; MacArthur DG; Davis MR; Laing NG; Clarke NF, 2014, 'Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, GERMANY, Berlin, pp. 805 - 805, presented at 19th International Congress of the World-Muscle-Society, GERMANY, Berlin, 07 October 2014 - 11 October 2014, http://dx.doi.org/10.1016/j.nmd.2014.06.049

Oates EC; Rosser AM; Hafezparast M; Lek M; Scoto M; Greensmith L; Auer-Grumbach M; Schule R; Herrmann DN; Clarke NF; MacArthur DG; Zuechner S; Muntoni F; Reilly MM; North KN, 2013, 'Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, CA, pp. 798 - 798, presented at 18th International Congress of the World-Muscle-Society (WMS), CA, 01 October 2013 - 05 October 2013, http://dx.doi.org/10.1016/j.nmd.2013.06.560

Rossor AM; Oates EC; Hafezparast M; Cottenie E; Houlden H; Scoto M; Foley R; Clark N; Hermann DN; Grumbach AM; Zuchner S; Muntoni F; North K; Reilly MM, 2013, 'A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA)', in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, WILEY-BLACKWELL, FRANCE, Saint Malo, pp. 96 - 97, presented at Meeting of the Peripheral-Nerve-Society, FRANCE, Saint Malo, 29 June 2013 - 03 July 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000320620200247&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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