Publications: DR Arianna Tucci

Wakeling E, Baptiste R, Rocca C, Hoskins B, Clarkson C, Chitty LS, Tucci A ( 2025 ) . Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice . Genetics in Medicine vol. 28 , ( 1 )

Bennett MF, Corbett MA, Kroes T, Canafoglia L, Oliver KL, Cameron JM, Sikta N, Munro J et al. ( 2025 ) . Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy . Brain Communications vol. 7 , ( 6 )

Bertini A, Facchini S, Quartesan I, Currò R, Schnekenberg RP, Dominik N, Alves G, Ferullo L et al. ( 2025 ) . CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project . Journal of Neurology Neurosurgery & Psychiatry

Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M et al. ( 2025 ) . Rare disease gene association discovery in the 100,000 Genomes Project . Nature1 - 9 .

Booth ME, Wood HM, Travis MA, Quirke P, Grabsch HI ( 2025 ) . The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas . Gastric Cancer vol. 28 , ( 3 ) 358 - 371 .

Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK et al. ( 2025 ) . Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants . Journal of the American Society of Nephrology vol. 36 , ( 6 ) 1056 - 1071 .

Elhassan EAE, Collins KE, Heneghan S, Gilbert E, Yang H, Senum SR, Schauer RS, Elbarougy DE et al. ( 2025 ) . The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease . Journal of Nephrology vol. 38 , ( 5 ) 1457 - 1467 .

Rocca C, Murphy D, Clarkson C, Zanovello M, Gagliardi D, Genomics S, Kaiyrzhanov R, Alvi J et al. ( 2025 ) . Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits . Genes vol. 16 , ( 2 )

Foddis M, Blumenau S, Mueller S, Messerschmidt C, Rocca C, Pagnamenta AT, Winek K, Endres M et al. ( 2025 ) . Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study . Stroke vol. 56 , ( 3 ) 725 - 736 .

Clarkson C, Chen Z, Rocca C, Jadhav B, Ibañez K, Ryten M, Sharp AJ, Houlden H et al. ( 2024 ) . A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank . Movement Disorders vol. 40 , ( 3 ) 561 - 566 .

Gagliardi D, Wade C, Tucci A, Houlden H, Chataway J, Barkhof F, Lynch DS ( 2024 ) . Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease . Journal of Neurology Neurosurgery & Psychiatry vol. 96 , ( 8 ) 728 - 735 .

Chen Z, Jerez PA, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A et al. ( 2024 ) . The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder . Movement Disorders vol. 40 , ( 2 ) 363 - 369 .

Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE et al. ( 2024 ) . Origins and impact of extrachromosomal DNA . Nature vol. 635 , ( 8037 ) 193 - 200 .

Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H et al. ( 2024 ) . Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry . Nature Communications vol. 15 , ( 1 )

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 Medicine vol. 30 , ( 11 ) 3357 - 3368 .

Chen Z, Morris HR, Polke J, Wood NW, Gandhi S, Ryten M, Houlden H, Tucci A ( 2024 ) . Repeat expansion disorders . Practical Neurology vol. 25 , ( 3 ) 204 - 216 .

Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T et al. ( 2024 ) . A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability . Nature Genetics vol. 56 , ( 11 ) 2322 - 2332 .

Thompson DJ, Wells D, Selzam S, Peneva I, Sharp K, Tarran WA, Beard EJ, Giner-Delgado C et al. ( 2024 ) . A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release . PLOS ONE vol. 19 , ( 9 )

Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H et al. ( 2024 ) . A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry . Nature Communications vol. 15 , ( 1 )

Vegezzi E, Ishiura H, Bragg DC, Pellerin D, Magrinelli F, Currò R, Facchini S, Tucci A et al. ( 2024 ) . Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis . The Lancet Neurology vol. 23 , ( 7 ) 725 - 739 .

Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG et al. ( 2024 ) . Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability . Journal of Medical Genetics vol. 61 , ( 7 ) 689 - 698 .

Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R, Consortium GER, Ambrose JC, Arumugam P et al. ( 2024 ) . Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy . Genetics in Medicine Open vol. 2 ,

Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I, Baralle D, Rehm HL et al. ( 2024 ) . A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project . Genetics in Medicine vol. 26 , ( 4 )

Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Jerez PA et al. ( 2024 ) . Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4 . Movement Disorders vol. 39 , ( 3 ) 486 - 497 .

( 2024 ) . Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease . Brain vol. 147 , ( 5 ) 1887 - 1898 .

Luo H, Gustavsson EK, Macpherson H, Dominik N, Zhelcheska K, Montgomery K, Anderson C, Yau WY et al. ( 2024 ) . Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022) . Acta Neuropathologica Communications vol. 12 , ( 1 )

Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet M-P, Friedrich A, Shaw M et al. ( 2023 ) . Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease . Gastroenterology vol. 166 , ( 5 ) 902 - 914 .

Lam T, Rocca C, Ibanez K, Dalmia A, Tallman S, Hadjivassiliou M, Hensiek A, Nemeth A et al. ( 2023 ) . Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population . Brain Communications vol. 5 , ( 5 )

Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2023 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 25 , ( 10 )

Hayward S, Norton J, Bownass L, Platt C, Campbell H, Watson E, Forrester N, Smithson S ( 2023 ) . A novel likely pathogenic CLCN5 variant in Dent’s disease . BMC Nephrology vol. 24 , ( 1 )

Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR et al. ( 2023 ) . Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease . Kidney International vol. 104 , ( 5 ) 995 - 1007 .

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M et al. ( 2023 ) . HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder . American Journal of Human Genetics vol. 110 , ( 8 ) 1414 - 1435 .

Kovilakam SC, Gu M, Dunn WG, Marando L, Barcena C, Nik-Zainal S, Ambrose JC, Kar S et al. ( 2023 ) . Prevalence and significance of DDX41 gene variants in the general population . Blood vol. 142 , ( 14 ) 1185 - 1192 .

Akinrinade O, Lesurf R, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L ( 2023 ) . Age and Sex Differences in the Genetics of Cardiomyopathy . Journal of Cardiovascular Translational Research vol. 16 , ( 6 ) 1287 - 1302 .

Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D et al. ( 2023 ) . Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis . Brain vol. 146 , ( 12 ) 5060 - 5069 .

Sanjaya P, Maljanen K, Katainen R, Aaltonen LA, Korbel JO ( 2023 ) . Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping . Genome Medicine vol. 15 , ( 1 )

Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Consortium GER, Ambrose JC, Arumugam P, Bevers R, Bleda M et al. ( 2023 ) . Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease . Kidney International vol. 104 , ( 5 ) 975 - 984 .

Leggatt G, Cheng G, Narain S, Briseño-Roa L, Gast C ( 2023 ) . A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project) . Scientific Reports vol. 13 , ( 1 )

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

Chen Z, Tucci A, Ryten M ( 2023 ) . Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia . New England Journal of Medicine vol. 388 , ( 21 )

Brais B, Pellerin D, Danzi MC ( 2023 ) . Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. Reply . New England Journal of Medicine vol. 388 , ( 21 )

Choi D-J, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Chen H-C et al. ( 2023 ) . The genomic landscape of familial glioma . Science Advances vol. 9 , ( 17 )

Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R, Ambrose JC, Arumugam P et al. ( 2023 ) . Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition . Brain vol. 146 , ( 9 ) 3885 - 3897 .

Jackson A, Lin S-J, Jones EA, Chandler KE, Orr D, Moss C, Holden S, Burrows N et al. ( 2023 ) . Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 . Human Genetics and Genomics Advances vol. 4 , ( 2 )

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 .

Seaby EG, Thomas NS, Brittain H, Baralle D, Rehm HL, O’Donnell-Luria A ( 2022 ) . Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project . Human Genetics vol. 142 , ( 3 ) 351 - 362 .

Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y et al. ( 2022 ) . Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing . Nature Communications vol. 13 , ( 1 )

Robbe P, Ridout KE, Vavoulis DV, Dréau H, Kinnersley B, Denny N, Chubb D, Appleby N et al. ( 2022 ) . Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features . Nature Genetics vol. 54 , ( 11 ) 1675 - 1689 .

Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S et al. ( 2022 ) . The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision . Nature Communications vol. 13 , ( 1 )

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 .

Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M et al. ( 2022 ) . Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype . npj Genomic Medicine vol. 7 , ( 1 )

Moreno-Ruiz N, Lao O, Aróstegui JI, Casals F ( 2022 ) . Assessing the digenic model in rare disorders using population sequencing data . European Journal of Human Genetics vol. 30 , ( 12 ) 1439 - 1443 .

Chan MM, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG et al. ( 2022 ) . Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves . eLife vol. 11 ,

Calì E, Lin S-J, Rocca C, Sahin Y, Al Shamsi A, Chehadeh SE, Chaabouni M, Mankad K et al. ( 2022 ) . A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease . Genetics in Medicine vol. 24 , ( 10 ) 2194 - 2203 .

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 )

Yahya S, Smith CEL, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI et al. ( 2022 ) . Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene . Ophthalmology vol. 130 , ( 1 ) 68 - 76 .

Gibson JT, Sadeghi-Alavijeh O, Gale DP, Rothe H ( 2022 ) . Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome . Scientific Reports vol. 12 , ( 1 )

Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS, Camps C, Taylor J, Carroll M et al. ( 2022 ) . Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis . European Respiratory Journal vol. 60 , ( 5 )

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

Reijns MAM, Parry DA, Williams TC, Nadeu F, Hindshaw RL, Rios Szwed DO, Nicholson MD, Carroll P et al. ( 2022 ) . Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline . Nature vol. 605 , ( 7910 ) e7 - e7 .

Trotman J, Armstrong R, Firth H, Trayers C, Watkins J, Allinson K, Jacques TS, Burke GAA ( 2022 ) . The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer . British Journal of Cancer vol. 127 , ( 1 ) 137 - 144 .

Baillie JK, Begg C, Clohisey Hendry S, Hinds C, Horby P, Knight J, Ling L, Maslove D et al. ( 2022 ) . Whole-genome sequencing reveals host factors underlying critical COVID-19 . Nature vol. 607 , ( 7917 ) 97 - 103 .

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 .

Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Storey H, Lipska-Ziętkiewicz BS, Chan MMY et al. ( 2022 ) . Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome . Scientific Reports vol. 12 , ( 1 )

Reijns MAM, Parry DA, Williams TC, Nadeu F, Hindshaw RL, Rios Szwed DO, Nicholson MD, Carroll P et al. ( 2022 ) . Signatures of TOP1 transcription-associated mutagenesis in cancer and germline . Nature vol. 602 , ( 7898 ) 623 - 631 .

Owen N, Toms M, Young RM, Eintracht J, Sarkar H, Brooks BP, Moosajee M, Consortium GER et al. ( 2022 ) . Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis . Genetics in Medicine vol. 24 , ( 5 ) 1073 - 1084 .

McGuigan A, Whitworth J, Andreou A, Hearn T, Tischkowitz M, Maher ER ( 2022 ) . Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update . European Journal of Human Genetics vol. 30 , ( 3 ) 265 - 270 .

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 .

Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle‐Biassette H, Marchal C et al. ( 2021 ) . Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy . Annals of Neurology vol. 91 , ( 1 ) 101 - 116 .

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 . The 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 ,

Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K et al. ( 2021 ) . Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project . Journal of Medical Genetics vol. 59 , ( 8 ) 737 - 747 .

Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B et al. ( 2021 ) . Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders . Scientific Reports vol. 11 , ( 1 )

Wei Y, Papachristou N, Mueller S, Chang WH, Lai AG ( 2021 ) . Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project . BMC Research Notes vol. 14 , ( 1 )

Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM et al. ( 2021 ) . Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss . American Journal of Human Genetics vol. 108 , ( 10 ) 2006 - 2016 .

Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV et al. ( 2021 ) . Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis . Genetics in Medicine vol. 23 , ( 12 ) 2360 - 2368 .

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 .

Iqbal M, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J et al. ( 2021 ) . Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies . Genetics in Medicine vol. 23 , ( 11 ) 2138 - 2149 .

Lin S-J, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V et al. ( 2021 ) . Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish . Genetics in Medicine vol. 23 , ( 10 ) 1933 - 1943 .

Zou X, Koh GCC, Nanda AS, Degasperi A, Roumeliotis TI, Agu CA, Badja C, Momen S et al. ( 2021 ) . A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage . Nature Cancer vol. 2 , ( 6 ) 643 - 657 .

Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P et al. ( 2021 ) . Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia . Journal of Clinical Investigation vol. 131 , ( 7 )

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 vol. 144 , ( 2 ) 584 - 600 .

Millar J, Nichol A, Walsh T, Shankar-Hari M, Ponting C, Meikle J, Finernan P, Mcmaster E 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 C-A, Greene P, Marsh JA, Consortium GER, Ambrose JC, Arumugam P, Baple EL et al. ( 2020 ) . Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy . Genetics in Medicine vol. 23 , ( 2 ) 408 - 414 .

Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G et al. ( 2020 ) . Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities . Annals of Neurology vol. 88 , ( 5 ) 867 - 877 .

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 vol. 28 , ( 12 ) 1763 - 1768 .

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, Consortium GER, Wang D, Harris J, Ambrose JC, Arumugam P, Baple EL, Bleda M 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 ,

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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 )

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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 .

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S et al. ( 2018 ) . Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome . Journal of Human Genetics vol. 63 , ( 3 ) 391 - 391 .

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 .

Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D ( 2016 ) . 16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation . European Journal of Medical Genetics vol. 60 , ( 3 ) 159 - 162 .

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. ( 2015 ) . Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 1221.e1–1221.e6] . Neurobiology of Aging vol. 36 , ( 4 )

Cortese A, Tucci A ( 2015 ) . Author response . Neurology vol. 84 , ( 6 )

Taschner PE, Cortese A, Tucci A ( 2015 ) . Novel CLN3 mutation causing autophagic vacuolar myopathy . Neurology vol. 84 , ( 6 )

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 .

Bellezza I, Tucci A, Galli F, Grottelli S, Mierla AL, Pilolli F, Minelli A ( 2012 ) . Inhibition of NF-κB nuclear translocation via HO-1 activation underlies α-tocopheryl succinate toxicity . The Journal of Nutritional Biochemistry vol. 23 , ( 12 ) 1583 - 1591 .

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 .

Minelli A, Bellezza I, Tucci A, Rambotti MG, Conte C, Culig Z ( 2008 ) . Differential involvement of reactive oxygen species and nucleoside transporters in cytotoxicity induced by two adenosine analogues in human prostate cancer cells . The Prostate vol. 69 , ( 5 ) 538 - 547 .

Bellezza I, Tucci A, Minelli A ( 2008 ) . 2-Chloroadenosine and human prostate cancer cells . Anti-Cancer Agents in Medicinal Chemistry vol. 8 , ( 7 ) 783 - 789 .

Minelli A, Bellezza I, Tucci A, Conte C, Bracarda S, Culig Z ( 2008 ) . 2‐Chloroadenosine modulates PAR‐1 and IL‐23 expression and enhances docetaxel effects on PC3 cells . The Prostate vol. 68 , ( 4 ) 360 - 372 .

Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T et al. . A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability .

Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Gonzalez-Latapi P, Patzke C, Schwake M et al. . Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia .

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Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L et al. . Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia .

Botía JA, Guelfi S, Zhang D, D’Sa K, Reynolds R, Onah D, McDonagh EM, Martin AR et al. . G2P: Using machine learning to understand and predict genes causing rare neurological disorders .

Gagliardi D, Villella C, Zanovello M, Iacobelli V, Corti S, Comi GP, Fratta P, Houlden H et al. . High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS .

Dolzhenko E, Weisburd B, Garikano KI, Babu ISR, Bennett MF, Billingsley K, Carroll A, Danzi MC et al. . REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats .