Publications: Dr Arianna Tucci

Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A et al. ( 2024 ) . Increased frequency of repeat expansion mutations across different populations . Nature Medicine1 - 12 .

Zeng Y-H, Gan S-R, Chen W-J ( 2023 ) . Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia . New England Journal of Medicine vol. 388 , ( 21 )

Zanovello M, Ibáñez K, Brown A-L, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G et al. ( 2023 ) . Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population . Brain vol. 146 , ( 7 ) 2723 - 2729 .

Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L et al. ( 2023 ) . Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia . Brain vol. 146 , ( 7 ) 2869 - 2884 .

Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S et al. ( 2022 ) . Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome . Neurology vol. 100 , ( 5 ) e543 - e554 .

Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2022 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 24 , ( 10 ) 2079 - 2090 .

Dolzhenko E, Weisburd B, Ibañez K, Rajan-Babu I-S, Anyansi C, Bennett MF, Billingsley K, Carroll A et al. ( 2022 ) . REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats . Genome Medicine vol. 14 , ( 1 )

Bennett MF, Tucci A, Bahlo M ( 2022 ) . Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use . Genomic Structural Variants in Nervous System Disorders , vol. 182 , Springer Nature

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. ( 2021 ) . Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene . neurogenetics vol. 23 , ( 1 ) 81 - 81 .

Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .

Rinaldi B, Ge Y-H, Freri E, Tucci A, Granata T, Estienne M, Sun J-H, Gérard B et al. ( 2021 ) . Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene . neurogenetics vol. 23 , ( 1 ) 27 - 35 .

Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS et al. ( 2021 ) . Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study . The BMJ vol. 375 ,

Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Custodio HM, Ambrose JC, Arumugam P, Baple EL et al. ( 2021 ) . Late diagnoses of Dravet syndrome: How many individuals are we missing? . Epilepsia Open vol. 6 , ( 4 ) 770 - 776 .

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

Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N et al. ( 2020 ) . Genetic mechanisms of critical illness in COVID-19 . Nature vol. 591 , ( 7848 ) 92 - 98 .

Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS et al. ( 2020 ) . Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis . Neuron vol. 109 , ( 3 ) 448 - 460.e4 .

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 ,

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 .

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 vol. 11 , ( 1 )

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 .

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 )

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 .

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 )

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 )

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 .

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 .

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 ,

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 .

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 .

Wheway G, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, Caulfield MJ et al. ( 2019 ) . Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project . Frontiers in Genetics vol. 10 ,

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 . Human Molecular Genetics vol. 28 , ( 20 ) 3391 - 3405 .

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 )

Chelban V, Wilson MP, Chardon JW, Vandrovcova J, Zanetti MN, Zamba‐Papanicolaou E, Efthymiou S, Pope S et al. ( 2019 ) . PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation . Annals of Neurology vol. 86 , ( 2 ) 225 - 240 .

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 .

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, Hardy J, Gagliano Taliun SA, Ryten M ( 2019 ) . Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability . npj Parkinson's Disease vol. 5 , ( 1 )

Wheway G, Consortium GER, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM et al. ( 2019 ) . Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project . Frontiers in Genetics vol. 10 ,

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. ( 2017 ) . Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease . Neurobiology of Aging vol. 64 , 159.e5 - 159.e8 .

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 .

Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol J-C, 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 .

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 ,

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 .

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 Medical Genomics vol. 17 , ( 1 )

Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D ( 2016 ) . Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene . American Journal of Medical Genetics Part A vol. 170 , ( 5 ) 1257 - 1261 .

Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H ( 2015 ) . Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing . European Journal of Human Genetics vol. 24 , ( 6 ) 857 - 863 .

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 . Journal of the Neurological Sciences 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. ( 2014 ) . The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism . Neurobiology of 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. ( 2013 ) . Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy . Journal of Neurology Neurosurgery & Psychiatry vol. 85 , ( 5 )

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán‐Ruiz C, Moore M et al. ( 2012 ) . Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity . Human Mutation 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 . Neuroscience Letters 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. ( 2011 ) . Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course . Movement Disorders 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 . European Journal of Human Genetics vol. 18 , ( 12 ) 1356 - 1359 .

Alonso‐Canovas A, Katschnig P, Tucci A, Carecchio M, Wood NW, Edwards M, Castrillo JCM, 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 . Movement Disorders vol. 25 , ( 10 ) 1506 - 1509 .