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  1. Queen Mary University of London
  2. Research
  3. Publications

Publications: DR Zhongbo Chen

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Saffie‐Awad P, Moller A, Daida K, Jerez PA, Chen Z, Anderson ZB, Isayan M, Paquette K et al. ( 2025 ) . Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients . Movement Disorders vol. 40 , ( 7 ) 1433 - 1441 .
D'Sa K, Choi ML, Wagen AZ, Setó-Salvia N, Kopach O, Evans JR, Rodrigues M, Lopez-Garcia P et al. ( 2025 ) . Astrocytic RNA editing regulates the host immune response to alpha-synuclein . Science Advances vol. 11 , ( 15 )
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW et al. ( 2025 ) . Splicing accuracy varies across human introns, tissues, age and disease . Nature Communications vol. 16 , ( 1 )
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 .
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 .
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 .
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH et al. ( 2024 ) . The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1 . Science Advances vol. 10 , ( 26 )
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 .
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 )
García-Ruiz S, Reynolds RH, Grant-Peters M, Gustavsson EK, Fairbrother-Browne A, Chen Z, Brenton JW, Ryten M ( 2023 ) . aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3 . Gigabyte vol. 2023 , 1 - 15 .
Estevez-Fraga C, Altmann A, Parker CS, Scahill RI, Costa B, Chen Z, Manzoni C, Zarkali A et al. ( 2023 ) . Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration . Brain vol. 146 , ( 11 ) 4532 - 4546 .
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 )
Chen Z, Reynolds RH, Pardiñas AF, Gagliano Taliun SA, van Rheenen W, Lin K, Shatunov A, Gustavsson EK et al. ( 2023 ) . The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases . Neurobiology of Disease vol. 180 ,
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 .
Cisterna A, González-Vidal A, Ruiz D, Ortiz J, Gómez-Pascual A, Chen Z, Nalls M, Faghri F et al. ( 2022 ) . PhenoExam: gene set analyses through integration of different phenotype databases . BMC Bioinformatics vol. 23 , ( 1 )
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire M-J, Scriba CK, Ashton C et al. ( 2022 ) . Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia . The New England Journal of Medicine vol. 388 , ( 2 ) 128 - 141 .
García-Ruiz S, Gustavsson EK, Zhang D, Reynolds RH, Chen Z, Fairbrother-Browne A, Gil-Martínez AL, Botia JA et al. ( 2022 ) . IntroVerse: a comprehensive database of introns across human tissues . Nucleic Acids Research vol. 51 , ( D1 ) d167 - d178 .
Chen Z, Cipriani V, Tucci A, Vestito L, Smedley D, Houlden H ( 2022 ) . 022  Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias . Journal of Neurology Neurosurgery & Psychiatry vol. 93 , ( 6 ) a107.3 - a1a108 .
Chen Z, Zhang D, Reynolds R, Gustavsson E, Ruiz SG, Hardy J, Houlden H, Taliun SG et al. ( 2022 ) . Genomic features specific to the human lineage are associated with neurological diseases and intelligence . Journal of Neurology Neurosurgery & Psychiatry vol. 93 , ( 6 ) a97.1 - a9a97 .
Sethi S, Zhang D, Guelfi S, Chen Z, Garcia-Ruiz S, Olagbaju EO, Ryten M, Saini H et al. ( 2022 ) . Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes . Nature Communications vol. 13 , ( 1 )
Fairbrother-Browne A, Ali AT, Reynolds RH, Garcia-Ruiz S, Zhang D, Chen Z, Ryten M, Hodgkinson A ( 2021 ) . Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease . Communications Biology vol. 4 , ( 1 )
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, D’Sa K, Fairbrother-Browne A, Vandrovcova J, Hardy J et al. ( 2021 ) . Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage . Nature Communications vol. 12 , ( 1 )
Yau WY, Chen Z, Sullivan R, Vandrovcova J ( 2021 ) . Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant? . Annals of Clinical and Translational Neurology vol. 8 , ( 4 ) 1002 - 1004 .
Keshavan A, Wellington H, Chen Z, Khatun A, Chapman M, Hart M, Cash DM, Coath W et al. ( 2021 ) . Concordance of CSF measures of Alzheimer's pathology with amyloid PET status in a preclinical cohort: A comparison of Lumipulse and established immunoassays . Alzheimer's & Dementia Diagnosis Assessment & Disease Monitoring vol. 13 , ( 1 )
Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L et al. ( 2020 ) . Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies . European Journal of Neurology vol. 28 , ( 4 ) 1344 - 1355 .
Chen Z, Ryten M, Houlden H ( 2020 ) . Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease . Annals of Clinical and Translational Neurology vol. 7 , ( 12 ) 2544 - 2545 .
Yau WY, Vandrovcova J, Sullivan R, Chen Z, Zecchinelli A, Cilia R, Murray M, Ishiura H et al. ( 2020 ) . Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders . Movement Disorders vol. 36 , ( 1 ) 251 - 255 .
Keshavan A, Wellington H, Chen Z, Khatun A, Chapman M, Hart M, Cash DM, Coath W et al. ( 2020 ) . Concordance of CSF measures of Alzheimer's pathology with amyloid PET status in a preclinical cohort: A comparison of Lumipulse and established immunoassays . Alzheimer's & Dementia Diagnosis Assessment & Disease Monitoring vol. 12 , ( 1 )
Chen Z, Yau WY, Jaunmuktane Z, Tucci A, Sivakumar P, Taliun SAG, Turner C, Efthymiou S et al. ( 2020 ) . Neuronal intranuclear inclusion disease is genetically heterogeneous . Annals of Clinical and Translational Neurology vol. 7 , ( 9 ) 1716 - 1725 .
Stevanin G, David G, Abbas N, Dürr A, Holmberg M, Duyckaerts C, Giunti P, Cancel G et al. ( 2020 ) . Spinocerebellar ataxia type 7 (SCA7) . Analysis of Triplet Repeat Disorders , Taylor & Francis
Yau WY, Sullivan R, Chen Z, Vandrovcova J, Houlden H ( 2020 ) . GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy . Annals of Neurology vol. 88 , ( 3 ) 641 - 642 .
Yau WY, O’Connor E, Chen Z, Vandrovcova J, Wood NW, Houlden H ( 2020 ) . GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor . Brain vol. 143 , ( 7 ) e57 - e57 .
Chen Z, Chen JA, Shatunov A, Jones AR, Kravitz SN, Huang AY, Lawrence L, Lewis CM et al. ( 2019 ) . Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy . Movement Disorders vol. 34 , ( 7 ) 1049 - 1059 .
Chen JA, Chen Z, Won H, Huang AY, Lowe JK, Wojta K, Yokoyama JS, Bensimon G et al. ( 2018 ) . Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases . Molecular Neurodegeneration vol. 13 , ( 1 )
Chen Z, Lin K, Macklis JD, Al-Chalabi A ( 2016 ) . Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration vol. 18 , ( 3-4 ) 175 - 181 .
Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J et al. ( 2016 ) . Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration vol. 17 , ( 7-8 ) 593 - 599 .
Rutter-Locher Z, Chen Z, Flores L, Basu T, Creamer D, Weeks R, Arya R, Nashef L ( 2016 ) . Sneddon's syndrome: it is all in the ectoderm . Practical Neurology vol. 16 , ( 4 )
Chen Z, Shatunov A, Bensimon G, Payan C, Ludolph A, Leigh N, Group NS, Al-Chalabi A ( 2015 ) . A GENOME-WIDE ASSOCIATION STUDY IN PROGRESSIVE SUPRANUCLEAR PALSY . Journal of Neurology Neurosurgery & Psychiatry vol. 86 , ( 11 )
Chen Z, Lin K, Shatunov A, Jones A, Al-Chalabi A ( 2015 ) . GENE SET ENRICHMENT ANALYSIS IN AMYOTROPHIC LATERAL SCLEROSIS . Journal of Neurology Neurosurgery & Psychiatry vol. 86 , ( 11 )
Chen Z, Zhang W-J, Ramachandran R, Rahman Y, Nashef L ( 2014 ) . BETTER LATE THAN NEVER? . Journal of Neurology Neurosurgery & Psychiatry vol. 85 , ( 10 ) e4 - e4 .
Sohaib SMA, Chen Z, Whinnett ZI, Bouri S, Dickstein K, Linde C, Hayes DL, Manisty CH et al. ( 2014 ) . Meta‐analysis of symptomatic response attributable to the pacing component of cardiac resynchronization therapy . European Journal of Heart Failure vol. 15 , ( 12 ) 1419 - 1428 .
Chen Z ( 2013 ) . Maximising opportunities in the academic foundation programme . The BMJ
Sohaib SMA, Chen Z, Whinnett Z, Francis DP, Manisty C ( 2012 ) . 001 Unbiased assessment of symptomatic “response rate” to cardiac resynchronisation therapy by systematic review of randomised controlled trials (REVERSE, MIRACLE, MIRACLE ICD, MIRACLE ICD II, CARE-HF, COMPANION, CONTAK-CD, and MUSTIC) . Heart vol. 98 , ( Suppl 1 )
Chen Z, Jones H ( 2012 ) . A case of tricuspid regurgitation and congestive cardiac failure presenting with orbital pulsation . JRSM Cardiovascular Disease vol. 1 , ( 1 ) 1 - 3 .
Chen Z, Turner MR ( 2010 ) . The internet for self-diagnosis and prognostication in ALS . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration vol. 11 , ( 6 ) 565 - 567 .
Chen Z, Pandit H, Taylor A, Gill H, Murray D, Ostlere S ( 2010 ) . Metal-on-metal hip resurfacings—a radiological perspective . European Radiology vol. 21 , ( 3 ) 485 - 491 .
Chen Z, Hothi SS, Xu W, Huang CL-H ( 2007 ) . Conduction velocities in amphibian skeletal muscle fibres exposed to hyperosmotic extracellular solutions . Journal of Muscle Research and Cell Motility vol. 28 , ( 4-5 ) 195 - 202 .
García-Ruiz S, Reynolds RH, Grant-Peters M, Gustavsson EK, Fairbrother-Browne A, Chen Z, Brenton JW, Ryten M . AWS-S3-Integrity-Check: An Open-Source Bash Tool to Verify the Integrity of a Dataset Stored on Amazon S3 .
D’Sa K, Choi ML, Wagen AZ, Setó-Salvia N, Kopach O, Evans JR, Rodrigues M, Lopez-Garcia P et al. . Astrocytic RNA editing regulates the host immune response to alpha-synuclein .
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 .
Fairbrother-Browne A, Ali AT, Reynolds RH, Garcia-Ruiz S, Zhang D, Chen Z, Ryten M, Hodgkinson A . Human brain mitochondrial-nuclear cross-talk is cell-type specific and is perturbed by neurodegeneration .
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, Ruiz SG, D’Sa K, Fairbrother-Browne A, Vandrovcova J et al. . Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage .
Saffie-Awad P, Moller A, Daida K, Jerez PA, Chen Z, Anderson ZB, Isayan M, Paquette K et al. . Identification of GGC Repeat Expansions in ZFHX3 Among Chilean Movement Disorder Patients .
Sethi S, Zhang D, Guelfi S, Chen Z, Garcia-Ruiz S, Ryten M, Saini H, Botia JA . Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes .
Cisterna A, González-Vidal A, Ruiz D, Ortiz J, Gómez-Pascual A, Chen Z, Nalls M, Faghri F et al. . PhenoExam: an R package and Web application for the examination of phenotypes linked to genes and gene sets .
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW et al. . Splicing accuracy varies across human introns, tissues and age .
Brenton JW, Follett J, Nirujogi R, Toomey CE, Lopez-Garcia P, Evans JR, Lee YJ, Syed KM et al. . TDP-43 loss of function drives aberrant splicing in Parkinson’s disease .
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH et al. . The annotation and function of the Parkinson’s and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1 .
Chen Z, Reynolds RH, Pardiñas AF, Taliun SAG, van Rheenen W, Lin K, Shatunov A, Gustavsson EK et al. . The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases .
Chen Z, Hicks A, Brenton J, Grant-Peters M, Reynolds RH, Gustavsson EK, Rocca C, Rocamora-Perez G et al. . Transcriptomic analysis of repeat expansion-ataxias uncovers distinct non-neuronal cell type-specific signatures of disease across the human brain .
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