Staff Profile

Dr Johnson is an Experimental Scientific Officer within the Genomics Core Facility, Newcastle University.

She obtained a First Class MSci (Hons) Genetics (with Industrial Placement) degree from the University of Aberdeen. During this time, she undertook a placement year with Pfizer, working to isolate and characterise shark single-domain antibodies targeted to a disease-associated ligand.

In 2012, she joined the lab of Prof. John Loughlin in the Institute of Cellular Medicine, Newcastle University, as an Arthritis Research UK-funded PhD student working to functionally dissect two osteoarthritis-associated loci.

After gaining her PhD, Dr Johnson joined the team of Prof. Volker Straub at the John Walton Muscular Dystrophy Research Centre at the Institute of Genetic Medicine, Newcastle University, in 2015. There, she was the manager and data analyst for the MYO-SEQ research project, which performed whole exome sequencing in 2,000 patients with unexplained suspected genetic muscle disease.

She then joined the Translational and Clinical Research Institute, Newcastle University, in 2018. Working on the LITMUS project within the group of Prof. Quentin Anstee and Prof. Ann Daly, Dr Johnson sequenced and characterised circulating miRNA profiles in patients with non-alcoholic fatty liver disease.

ORCID: Click here.

• 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.
• 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.
• 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.
• Kovaleva M, Johnson K, Steven J, Barelle CJ, Porter A. Therapeutic potential of shark anti-ICOSL VNAR domains is exemplified in a murine model of autoimmune non-infectious uveitis. Frontiers in Immunology 2017, 8, 1121.
• Strehle EM, Johnson K, Rakocevic-Stojanovic V, Peric S, Farrugia M, Longman C, Straub V. Two novel mutations in the FHL1 gene extending the phenotypic spectrum. In: 22nd International Congress of the World Muscle Society. 2017, St Malo, France: Elsevier.
• 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.
• 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.
• 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.
• 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.
• 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.
• Johnson K, Reynard LN, Loughlin J. Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591. BMC Medical Genetics 2015, 16(1), 81.
• Johnson K, Reynard LN, Loughlin J. Functional analysis of the osteoarthritis susceptibility locus marked by the polymorphism rs10492367. In: 2014 World Congress on Osteoarthritis: Promoting Clinical and Basic Research in Osteoarthritis. 2014, Paris: Elsevier.
• 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.
• 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.
• 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.
• Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, GrahamJr JM, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. Neurology 2018, 91(6), e562-e570.
• 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.
• Peric S, Glumac JN, Töpf A, Savic-Pavicevic D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkusanin M, Milenkovic S, Rasic VM, Banko B, Maksimovic R, Lochmüller H, Stojanovic VR, Straub V. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. European Journal of Human Genetics 2017, 25(5), 572-581.
• 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.
• 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.
• 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.
• Becker L-L, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S. The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification. Journal of Human Genetics 2020, 65(11), 1003–1017.
• Govaere O, Cockell S, Tiniakos D, Queen R, Younes R, Vacca M, Alexander L, Ravaioli F, Palmer J, Petta S, Boursier J, Rosso C, Johnson K, Wonders K, Day CP, Ekstedt M, Oresic M, Darlay R, Cordell H, Marra F, Vidal-Puig A, Bedossa P, Schattenberg JM, Clément K, Allison M, Bugianesi E, Ratziu V, Daly AK, Anstee QM. Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis. Science Translational Medicine 2020, 12(572), eaba4448.
• 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.
• Peric S, Stevanovic J, Johnson K, Kosac A, Peric M, Brankovic M, Marjanovic A, Jankovic M, Banko B, Milenkovic S, Durdic M, Bozovic I, Glumac JN, Lavrnic D, Maksimovic R, Milic-Rasic V, Rakocevic-Stojanovic V. Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia. Acta Myologica 2019, 38(3), 163-171.
• 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.