Publications: Dr Arianna Tucci
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
.