Staff Profile | Faculty of Medical Sciences

Dr Ana Topf

Senior Research Associate

Email: ana.topf@ncl.ac.uk
Telephone: +44 (0) 191 241 8653
Fax: +44 (0) 191 241 8666
Address: Translational and Clinical Research Institute,
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ

Publications

Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Doza JP, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot. Circulation: Cardiovascular Genetics 2012, 5(3), 287-292.
Mamasoula C, Pierscionek T, Hall D, Topf A, Doza JP, Rahman T, Tan A, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Riveron JG, Bu'Lock FA, O'Sullivan J, Wren C, Goodship JA, Cordell HJ, Keavney B. Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis. In: 20th Annual Meeting of the International Genetic Epidemiology Society (IGES). 2012, Heidelberg, Germany: John Wiley & Sons, Inc.
Soemedi R, Wilson IJ, Bentham J, Darlay R, Topf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease. American Journal of Human Genetics 2012, 91(3), 489-501.
Doza JP, Topf A, Bentham J, Bhattacharya S, Cosgrove C, Granados-Riveron J, Goodship J, Henderson D, O'Sullivan J, Keavney BD. Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to congenital heart disease. In: Congress of the European Society of Cardiology (ESC). 2012, Munchen, Germany: Oxford University Press.
Tan HL, Glen E, Topf A, Hall D, O'Sulliyan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Human Mutation 2012, 33(4), 720-727.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devreindt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue G, Winlaw D, Hurles M, Santibanez-Koref M, Cordell H, Goodship J, Keavney B. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics 2012, 21(7), 1513-1520.
Tan HL, Glen EA, Topf AL, Hall DH, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD. Non-synonymous SMAD6 mutations impaired inhibition of BMP signalling in patients with congenital cardiovascular malformation. In: Heart: Annual Conference of the British Cardiovascular Society (BCS). 2011, Manchester, UK: BMJ Group.
Gungor S, Oktay Y, Hiz S, Aranguren-Ibanez A, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Ozgor B, Balaraju S, Szabo N, Laurie S, Beltran S, MacArthur DG, Hathazi D, Topf A, Roos A, Lochmuller H, Vernos I, Horvath R. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 2021, 24(1), 101948.
Yaramis A, Lochmuller H, Topf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Polat AI, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y. COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children. Neurology: Genetics 2020, 6(1), e392.
Servian-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bonnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Topf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathologica 2020, 139, 565-582.
Lim AZ, McMacken G, Rastelli F, Olahova M, Baty K, Hopton S, Falkous G, Topf A, Lochmuller H, Marini-Bettolo C, McFarland R, Taylor RW. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscular Disorders 2020, 30(8), 661-668.
Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panades-de Oliveira L, Dominguez-Gonzalez C, Inashkina I, Kidere D, Chrestian N, Lace B. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. Neuromuscular Disorders 2020, 30(6), 483-491.
Kolbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Topf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Furst DO, Schara U. First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Human Mutation 2020, 41(9), 1600-1614.
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent J-P, Lochmuller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Annals of Clinical and Translational Neurology 2020, 7(5), 757-766.
Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Topf A, Rubegni A, Kuhn M, Giugliano T, Glaser D, Fattori F, Thompson R, Penttila S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmuller H, Santorelli FM, Schoser B, Fajkusova L, Straub V, Nigro V, Hackman P, Udd B. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. Journal of Neuromuscular Diseases 2020, 7(2), 153-166.
Topf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasus AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, Akay E, Alonso-Perez J, Baets J, Barisic N, Bastian A, Borell S, Chamova T, Claeys K, Colomer J, Coppens S, Deconinck N, de Ridder W, Diaz-Manera J, Dominguez-Gonzalez C, Duncan A, Durmus H, Fahmy NA, Farrugia ME, Fernandez-Torron R, Gonzalez-Quereda L, Haberlova J, von der Hagen M, Hahn A, Jakovcevic A, JericoPascual I, Kapetanovic S, Kenina V, Kirschner J, Klein A, Kolbel H, Kostera-Pruszczyk A, Kulshrestha R, Lahdetie J, Layegh M, Longman C, Lopezde Munain A, Loscher W, Lusakowska A, Maddison P, Magot A, Majumdar A, Marti P, MartinezArroyo A, Mazanec R, Mercier S, Mongini T, Muelas N, Nascimento A, Nafissi S, Omidi S, Ortez C, Paquay S, Pereon Y, Peric S, Ponzalino V, Rakocevic Stojanovic V, Remiche G, RodriguezSainz A, Rudnik S, SanchezAlbisua I, Santos M, Schara U, Shatillo A, Sertic J, Stephani U, Strang-Karlsson S, Sznajer Y, Tanev A, Tournev I, Van den Bergh P, Van Parijs V, Vilchez J, Vill K, Vissing J, Wallgren-Pettersson C, Wanschitz J, Willis T, Witting N, Zulaica M, Straub V. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in Medicine 2020, 22, 1478-1488.
Topf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Gungor S, Lochmuller H, Hiz S, Horvath R. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. European Journal of Human Genetics 2020, 28, 383–387.
Paketci C, Edem P, Hiz S, Sonmezler E, Soydemir D, Sarikaya Uzan G, Oktay Y, O'Heir E, Beltran S, Laurie S, Topf A, Lochmuller H, Horvath R, Yis U. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain and Development 2020, 42(7), 539-545.
Vissing J, Johnson K, Topf A, Nafissi S, Diaz-Manera J, French VM, Schindler RF, Sarathchandra P, Lokken N, Rinne S, Freund M, Decher N, Muller T, Duno M, Krag T, Brand T, Straub V. POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. Annals of Neurology 2019, 86(6), 832-843.
Jarmula A, Lusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Topf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ. ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. Scientific Reports 2019, 9(1), 11533.
Milev MP, Stanga D, Schanzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Topf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein. Scientific reports 2019, 9(1), 14036.
Balaraju S, Topf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Atchayaram N, Lochmuller H. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. European Journal of Human Genetics 2019, (ePub ahead of Print).
Yis U, Hiz S, Gunes S, Diniz G, Baydan F, Topf A, Sonmezler E, Lochmuller H, Horvath R, Oktay Y. Dihydropyridine Receptor Congenital Myopathy in A Consangineous Turkish Family. Journal of Neuromuscular Diseases 2019, 6(3), 377-384.
Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Peric S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Lusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. Journal of Neurology, Neurosurgery and Psychiatry 2019, 90(4), 490-493.
Gatz C, Hathazi D, Munchberg U, Buchkremer S, Labisch T, Munro B, Horvath R, Topf A, Weis J, Roos A. Identification of cellular pathogenicity markers for SIL1 mutations linked to marinesco-sjögren syndrome. Frontiers in Neurology 2019, 10, 562.
Thompson R, Papakonstantinou Ntalis A, Beltran S, Topf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmuller H. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Human Mutation 2019, 40(10), 1797-1812.
Oury J, Liu Y, Topf A, Todorovic S, Hoedt E, Preethish-Kumar V, Neubert TA, Lin W, Lochmuller H, Burden SJ. MACF1 links rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. Journal of Cell Biology 2019, 218(5), 1686-1705.
De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze J-F, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Topf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G, Baets J. Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES. Neurology: Genetics 2019, 5(2), e321.
Lemmers RJLF, Van Der Stoep N, Vliet PJVD, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Selvatici R, Ferlini A, Voermans N, Van Engelen B, Sacconi S, Tawil R, Lamers M, Van Der Maarel SM. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. Journal of Medical Genetics 2019, 56(10), 693-700.
Harris E, Marini-Bettolo C, Topf A, Barresi R, Polvikovski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmuller H, Bushby K, Straub V. MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Neuromuscular Disorders 2018, 28(1), 48-53.
de Paula Estephan E, dos Rosa Sobreira CF, dos Santos ACJ, Tomaselli PJ, Marques W, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Neto OA, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. Journal of Neurology 2018, 265(3), 708-713.
Gonzalez-Quereda L, Gallardo E, Topf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement. Neuromuscular Disorders 2018, 28(8), 633-638.
Strang-Karlsson S, Johnson K, Topf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscular Disorders 2018, 28(7), 614-618.
O'Connor E, Topf A, Zahedi R, Spendiff S, Cox D, Roos A, Lochmuller H. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Annals of the New York Academy of Sciences 2018, 1412(15), 102-112.
Johnson K, Bertoli M, Phillips L, Topf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Lusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernandez-Torron R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal Muscle 2018, 8(1), 23.
Østergaard ST, Johnson K, Stojkovic T, Krag T, DeRidder W, DeJonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Limb girdle muscular dystrophy due to mutations in POMT2. Journal of Neurology, Neurosurgery and Psychiatry 2018, 89(5), 506-512.
Owen D, Topf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmuller H. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. American Journal of Medical Genetics, Part A 2018, 176(7), 1594-1601.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou F, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock F, O'Sullivan JJ, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney B. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. Circulation Research 2018, 124(4), 553-563.
Alrohaif H, Topf A, Evangelista T, Lek M, McArthur D, Lochmuller H. Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. Neurology Genetics 2018, 4(2), e226.
Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Topf A, Straub V. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscular Disorders 2017, 27(11), 1043-1046.
Harris E, Topf A, Vihola A, Evila A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmuller H, Bushby K, Udd B, Straub V. A 'second truncation' in TTN causes early onset recessive muscular dystrophy. Neuromuscular Disorders 2017, 27(11), 1009-1017.
Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Topf A, Bushby K, McArthur D, Lochmuller H, Ferlini A, Straub V, Barresi R. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscular Disorders 2017, 27(9), 861-872.
Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Topf A, Straub V. Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. Neuromuscular Disorders 2017, 28(1), 101.
Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnusson O, Lek M, MacArthur D, Bushby K, Lochmuller H, Straub V. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet Journal of Rare Diseases 2017, 12(151), -.
Johnson K, Topf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Peric S, Hahn A, Maddison P, Akay E, Bastian AE, Lusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet Journal of Rare Diseases 2017, 12, 173.
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, Bonnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine 2017, 9(386).
Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. Neurology: Genetics 2017, 3(3), e152.
Natera-de Benito D, Topf A, Vilchez JJ, Gonzalez-Quereda L, Dominguez-Carral J, Diaz-Manera J, Ortez C, Bestue M, Gallano P, Dusl M, Abicht A, Muller JS, Senderek J, Garcia-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodriguez Cruz PM, Camacho A, Jimenez E, Miranda-Herrero MC, Santana-Artiles A, Garcia-Campos O, Dominguez-Rubio R, Olive M, Colomer J, Beeson D, Lochmuller H, Nascimento A. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscular Disorders 2017, 27(12), 1087-1098.
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain 2017, 140(1), 37-48.
Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Muller JS, Evangelista T, Topf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmuller H. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. Journal of Neurology 2016, 263(3), 517-523.
Van den Bergh P, Sznajer Y, Van Parijs V, van Tol W, Wevers R, Lefeber D, Xu L, Lek M, MacArthur D, Xu L, Lek M, MacArthur D, Johnson K, Phillips L, Topf A, Straub V. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
Topf A, Nikodinović Glumac J, Perić S, Cassop-Thompson M, Bertoli M, Johnson K, Phillips L, MacArthur D, Rakočević Stojanović V, Straub V. A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
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. 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. In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
Johnson K, Bertoli M, Phillips L, Töpf A, Claeys K, Stojanovic VR, Perić S, Vissing J, Hahn A, Maddison P, Akay E, Bastian A, Łusakowska A, Lek M, Xu L, MacArthur D, Straub V. Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
Ortez C, Jou C, Campistol J, Nascimento A, Jimenez-Mallebrera C, Topf A, Johnson K, Straub V, Codina A, Corbera J, Colomer J. Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 2016, 139(8), 2143-2153.
Phillips L, Töpf A, Johnson K, Bertoli M, Xu L, Lek M, Claeys K, Van den Bergh P, Vissing J, Colomer J, Wallgren-Patterson C, de Munain AL, Vilchez J, Kostera-Pruszczyk A, MacArthur D, Straub V. Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
Bauche S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacene E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Boeuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. American Journal of Human Genetics 2016, 99(3), 753-761.
Ortez C, Nascimento A, Jimenez-Mallebrera C, Jou C, Llano M, Rodriguez A, Topf A, Johnson K, Straub V, Olive M, Codina A, Corbera J, Colomer J. Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings. In: 21st International Congress of the World Muscle Society. 2016, Grenada, Spain: Elsevier.
Natera-de Benito D, Bestue M, Vilchez JJ, Evangelista T, Topf A, Garcia-Ribes A, Trujillo-Tiebas MJ, Garcia-Hoyos M, Ortez C, Camacho A, Jimenez E, Dusl M, Abicht A, Lochmuller H, Colomer J, Nascimento A. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscular Disorders 2016, 26(2), 153-159.
Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(6), 680-681.
Johnson K, Bertoli M, Phillips L, Töpf A, Lek M, Xu L, MacArthur D, Straub V. The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
Bertoli M, Topf A, Harris E, Laval S, Sarkozy A, Lochmuller H, Lynch S, Straub V. A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism. In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
Goodship J, Miossec M, Brown D, Wilson I, Sutcliffe L, Topf A, Devriendt K, Rauch A, Winlaw D, Bu'Lock F, Bhattacharya S, Lathrop M, Keavney B, Santibanez-Koref M. Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot. In: American Society of Human Genetics Annual Meeting (ASHG). 2015, Baltimore.
Thorsson T, Russell WW, El-Kashlan N, Soemedi R, Levine J, Geisler SB, Ackley T, Tomita-Mitchell A, Rosenfeld JA, Topf A, Tayeh M, Goodship J, Innis JW, Keavney B, Russell MW. Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development. Congenital Heart Disease 2015, 10(3), 193-208.
Harris E, Topf A, McEntagart M, Sewry C, Straub V. Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. In: 20th International Congress of The World Muscle Society. 2015, Brighton, UK: Elsevier.
Howey R, Mamasoula C, Töpf A, Nudel R, Goodship JA, Keavney BD, Cordell HJ. Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation. American Journal of Human Genetics 2015, 97(3), 419-434.
Howey R, Mamasoula C, Topf A, Nudel R, Newbury DF, Fisher SE, Goodship JA, Keavney BD, Cordell HJ. Increased power for detection of parent-of-origin effects via the use of haplotype estimation. In: 2015 Annual Meeting of the International Genetic Epidemiology Society. 2015, Maryland, USA: John Wiley & Sons, Inc.
Oncel I, Topf A, Evangelista T, Konuskan B, Talim B, Abicht A, Lochmuller H, Topaloglu H. Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect. In: 19th International Congress of The World Muscle Society. 2014, Berlin, Germany: Elsevier.
Topf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, Rahman TJ, Eloranta JJ, Jungst C, Stuart AG, O'Sullivan J, Keavney BD, Goodship JA. Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot. PLoS One 2014, 9(8), e95453.
Bada WU, Miossec MJ, Hussain R, Rahman T, Topf A, Hall D, Santibanez-Koref M, Keavney B, Goodship J. Investigating the cause of transposition of great arteries; exome sequencing analysis. In: ESC Congress 2014. 2014, Barcelona, Spain: Oxford University Press.
Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, DeGrassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, vonderHagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of Neuromuscular Diseases 2014, 1(1), 75-90.
Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drogemuller C, Goodship JA, Clarke AJ, Leeb T. A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti. PLoS ONE 2013, 8(12), e81625.
Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Granados Riveron J, Setchfield K, Brook JD, Bu'lock FA, Thornborough C, Rahman TJ, PalominoDoza J, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD. Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls. Circulation: Cardiovascular Genetics 2013, 6(4), 347-353.
Cordell HJ, Topf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Riveron JG, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJM, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AFM, Rauch A, Lathrop GM, Keavney BD, Goodship JA. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot. Human Molecular Genetics 2013, 22(7), 1473-1481.
Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AFM, Zwinderman AH, Barnett P, Koopman TT, Adriaens ME, Varro A, George Jr AL, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewilling M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJM, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics 2013, 45(7), 822-824.
Towers RE, Clarke A, Millar D, Glen E, Topf A, Goodship J. Incontinentia pigmenti in horses. In: GEMS Conference 2012. 2013, Sage.
Palomino Doza J, Topf A, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Relton C, Goodship J, Henderson DJ, Keavney B. Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot. BMC Genetics 2013, 14, 57.
Mamasoula V, Pierscionek T, Hall D, Palomino-Doza J, Topf A, Rahman T, Goodship J, Keavney B. Aetiological role of folate deficiency in congenital heart disease: evidence from Mendelian randomisation and meta-analysis. In: British Cardiovascular Society Annual Conference. 2011, Manchester, UK: BMJ Publishing Group.
Topf A, Griffin HR, Hall DH, Glen E, Keavney BD, Goodship JA, Change Study Collaborators. GENE SCREENING OF THE SECONDARY HEART FIELD NETWORK IN TETRALOGY OF FALLOT PATIENTS. In: HEART. 2011, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: B M J PUBLISHING GROUP.
Tan HL, Topf A, Griffin H, Doza JP, Hall D, Hussain R, Eden J, Rahman T, Cunnington M, Goodship J, Keavney B. Role of Genetic Variation in the Transcriptional Inhibitor Protein SMAD6 in the Predispoition to Congenital Cardiovascular Malformation. In: British Cardiovascular Society Annual Conference and Exhibition. 2009, London, UK: BMJ Publishing Group.