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  1. Queen Mary University of London
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Publications: Dr Arianna Tucci

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Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D et al. ( 2022 ) . Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study . The Lancet Neurology vol. 21 , ( 3 ) 234 - 245 .
Rinaldi B, Ge Y, Freri E, Tucci A, Granata T, Estienne M, Sun J, Gérard B et al. ( 2022 ) . Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene (neurogenetics, (2022), 23, 1, (27-35), 10.1007/s10048-021-00666-1) . Neurogenetics vol. 23 , ( 1 )
Rinaldi B, Ge YH, Freri E, Tucci A, Granata T, Estienne M, Sun JH, Gérard B et al. ( 2022 ) . Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene . Neurogenetics vol. 23 , ( 1 ) 27 - 35 .
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H, Jones WD, Balestrini S, Sisodiya SM et al. ( 2021 ) . Late diagnoses of Dravet syndrome: How many individuals are we missing? . Epilepsia Open vol. 6 , ( 4 ) 770 - 776 .
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS et al. ( 2021 ) . Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis . Neuron vol. 109 , ( 3 ) 448 - 460.e4 .
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M et al. ( 2021 ) . An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy . Brain
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA et al. ( 2020 ) . Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (Nature Communications, (2020), 11, 1, (1740), 10.1038/s41467-020-15336-3) . Nature Communications vol. 11 , ( 1 )
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J et al. ( 2020 ) . DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration . Genetics in Medicine vol. 22 , ( 12 ) 2041 - 2051 .
Thomas ERA, Pasko D, Boustred C, Kasperaviciute D, Bleda M, Martin AR, Smedley D, McDonagh E et al. ( 2020 ) . Modelling diagnostic yield in the 100,000 Genomes Rare Disease Project using panel-based analysis and complementary approaches . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 639 - 640 .
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA et al. ( 2020 ) . Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans . Nature Communications vol. 11 , ( 1 )
Guelfi S, D’Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L et al. ( 2020 ) . Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information . Nature Communications vol. 11 , ( 1 )
Smedley D, Abbs S, Arno G, Baple E, Barnes M, Beales P, Bitner-Glindzicz M, Black G et al. ( 2020 ) . The impact of the 100,000 Genomes Project on rare disease in national healthcare . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 54 - 55 .
Kasperaviciute D, Smith KR, Ibanez K, Pasko D, Bleda M, Walker S, Polychronopoulos D, Martin AR et al. ( 2020 ) . Validation of Clinically Relevant Variant Detection from Whole Genome Sequencing for NHS England's Genomic Medicine Service . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 640 - 641 .
Parry DA, Martin CA, Greene P, Marsh JA, Ambrose JC, Arumugam P, Baple EL, Bleda M et al. ( 2020 ) . Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy . Genetics in Medicine
Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R et al. ( 2020 ) . Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project . European Journal of Human Genetics
Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S et al. ( 2020 ) . Neuronal intranuclear inclusion disease is genetically heterogeneous . Annals of Clinical and Translational Neurology Article acn3.51151 ,
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M et al. ( 2020 ) . De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas . American Journal of Human Genetics vol. 106 , ( 6 ) 830 - 845 .
Freeman TM, Wang D, Harris J, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F et al. ( 2020 ) . Genomic loci susceptible to systematic sequencing bias in clinical whole genomes . Genome Research vol. 30 , ( 3 ) 415 - 426 .
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H et al. ( 2020 ) . Human and mouse essentiality screens as a resource for disease gene discovery . Nature Communications vol. 11 , ( 1 )
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G et al. ( 2019 ) . AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders . Nature Communications vol. 10 , ( 1 )
Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH et al. ( 2019 ) . Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset . npj Parkinson's Disease vol. 5 , ( 1 )
Reynolds RH, Botía J, Nalls MA, Noyce AJ, Nicolas A, Cookson MR, Bandres-Ciga S, Gibbs JR et al. ( 2019 ) . Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability . npj Parkinson's Disease vol. 5 , ( 1 )
Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K et al. ( 2019 ) . Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2 . Frontiers in Immunology vol. 10 ,
Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, Emig-Agius D, Gross A et al. ( 2019 ) . ExpansionHunter: A sequence-graph-based tool to analyze variation in short tandem repeat regions . Bioinformatics vol. 35 , ( 22 ) 4754 - 4756 .
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR et al. ( 2019 ) . PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels . Nature Genetics vol. 51 , ( 11 ) 1560 - 1565 .
Pagnamenta AT, Heemeryck P, Martin HC, Bosc C, Peris L, Uszynski I, Gory-Fauré S, Couly S et al. ( 2019 ) . Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice . Hum Mol Genet vol. 28 , ( 20 ) 3391 - 3405 .
Smith KR, Bleda M, Kasperaviciute D, Ibanez K, Martin AR, Thomas E, Baple E, Tucci A et al. ( 2019 ) . Uniparental disomy in the Rare Disease Programme of the UK's 100,000 Genomes Project . EUROPEAN JOURNAL OF HUMAN GENETICS . Conference: European Society of Human Genetics vol. 27 , 1153 - 1154 .
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S et al. ( 2019 ) . PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation . Ann Neurol vol. 86 , ( 2 ) 225 - 240 .
Wheway G, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR et al. ( 2019 ) . Corrigendum: Opportunities and challenges for molecular understanding of ciliopathies - The 100,000 Genomes Project (Frontiers in Genetics DOI: 10.3389/fgene.2019.00127) . Frontiers in Genetics vol. 10 , ( MAY )
Wheway G, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR et al. ( 2019 ) . Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project . Frontiers in Genetics vol. 10 , ( MAR )
Ciaccio C, Scuvera G, Tucci A, Gentilin B, Baccarin M, Marchisio P, Avignone S, Milani D ( 2018 ) . New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review . Cytogenetic and Genome Research vol. 156 , ( 3 ) 127 - 133 .
Thomas ERA, Devereau A, Brittain H, Tucci A, Ryten M, Smedley D, Rendon A, Caulfield MJ et al. ( 2018 ) . Widespread uptake of the Human Phenotype Ontology (HPO) in the National Health Service (NHS) in England as part of the 100,000 Genomes Project . EUROPEAN JOURNAL OF HUMAN GENETICS . Conference: european society human genetics vol. 27 , 513 - 513 .
Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN et al. ( 2018 ) . Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease . Neurobiology of Aging vol. 64 , 159.e5 - 159.e8 .
Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P et al. ( 2017 ) . NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases . Neurobiology of Aging vol. 57 , 247.e9 - 247.e13 .
Ferrari L, Scuvera G, Tucci A, Bianchessi D, Rusconi F, Menni F, Battaglioli E, Milani D et al. ( 2017 ) . Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth . Human Genetics vol. 136 , ( 10 ) 1329 - 1339 .
Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S et al. ( 2017 ) . The absence that makes the difference: choroidal abnormalities in Legius syndrome . Journal of Human Genetics vol. 62 , ( 11 ) 1001 - 1004 .
Chelban V, Tucci A, Lynch DS, Polke JM, Santos L, Jonvik H, Groppa S, Wood NW et al. ( 2017 ) . Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia . Journal of Neurology, Neurosurgery & Psychiatry vol. 88 , ( 8 ) 681 - 687 .
Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D ( 2017 ) . 7p22.1 microduplication syndrome: Refinement of the critical region . European Journal of Medical Genetics vol. 60 , ( 2 ) 114 - 117 .
Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D ( 2016 ) . Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases . American Journal of Medical Genetics Part A vol. 173 , ( 3 ) 638 - 646 .
Tucci A, Ciaccio C, Scuvera G, Esposito S, Milani D ( 2016 ) . MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions . Molecular Cytogenetics vol. 9 , ( 1 ) Article 80 ,
Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H ( 2016 ) . Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing . Eur J Hum Genet vol. 24 , ( 6 ) 857 - 863 .
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A et al. ( 2016 ) . Genetic and phenotypic characterization of complex hereditary spastic paraplegia . Brain vol. 139 , ( 7 ) 1904 - 1918 .
Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D ( 2016 ) . Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene . Am J Med Genet A vol. 170A , ( 5 ) 1257 - 1261 .
Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D ( 2016 ) . The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome . BMC Med Genet vol. 17 ,
Koutsis G, Lynch DS, Tucci A, Houlden H, Karadima G, Panas M ( 2015 ) . A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings . J Neurol Sci vol. 355 , ( 1-2 ) 199 - 201 .
Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R et al. ( 2015 ) . Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism . Neurobiol Aging vol. 36 , ( 2 ) 1221.e1 - 1221.e6 .
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C et al. ( 2014 ) . Novel CLN3 mutation causing autophagic vacuolar myopathy . Neurology vol. 82 , ( 23 ) 2072 - 2076 .
Tucci A, Liu Y-T, Preza E, Pitceathly RDS, Chalasani A, Plagnol V, Land JM, Trabzuni D et al. ( 2014 ) . Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy . J Neurol Neurosurg Psychiatry vol. 85 , ( 5 ) 486 - 492 .
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M et al. ( 2013 ) . Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity . Hum Mutat vol. 34 , ( 2 ) 296 - 300 .
Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H et al. ( 2012 ) . Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases . Neurology vol. 79 , ( 2 ) 127 - 131 .
Tucci A, Charlesworth G, Sheerin U-M, Plagnol V, Wood NW, Hardy J ( 2012 ) . Study of the genetic variability in a Parkinson's Disease gene: EIF4G1 . Neurosci Lett vol. 518 , ( 1 ) 19 - 22 .
Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A et al. ( 2012 ) . Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course . Mov Disord vol. 27 , ( 3 ) 393 - 399 .
Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C ( 2010 ) . Genetic variability at the PARK16 locus . Eur J Hum Genet vol. 18 , ( 12 ) 1356 - 1359 .
Alonso-Canovas A, Katschnig P, Tucci A, Carecchio M, Wood NW, Edwards M, Martínez Castrillo JC, Burke D et al. ( 2010 ) . Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review . Mov Disord vol. 25 , ( 10 ) 1506 - 1509 .
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