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Koks, Gea, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2021) At the dawn of the transcriptomic medicine. EXPERIMENTAL BIOLOGY AND MEDICINE, 246 (3). pp. 286-292.

Fröhlich, Alexander, Hughes, Lauren S, Middlehurst, Ben ORCID: 0000-0002-2603-2719, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Koks, Sulev ORCID: 0000-0001-6087-6643 and Quinn, John P ORCID: 0000-0003-3551-7803 (2023) CRISPR deletion of a SINE-VNTR-<i>Alu</i> (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the <i>MAPT</i> locus. Frontiers in neurology, 14. 1273036-.

Frohlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Koks, Sulev ORCID: 0000-0001-6087-6643 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Characterisation of the Function of a SINE-VNTR-<i>Alu</i> Retrotransposon to Modulate Isoform Expression at the <i>MAPT</i> Locus. FRONTIERS IN MOLECULAR NEUROSCIENCE, 15. 815695-.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2021) Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22 (12). 6319-.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2023) A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24 (14). 11548-.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2020) An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (18). E6562-.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2022) Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis. MOLECULAR BRAIN, 15 (1). 25-.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription. Experimental biology and medicine (Maywood, N.J.), 247 (11). p. 15353702221081027.

Müller-Nedebock, Amica C, Pfaff, Abigail L, Pienaar, Ilse S, Kõks, Sulev, van der Westhuizen, Francois H, Elson, Joanna L and Bardien, Soraya (2022) Mitochondrial DNA variation in Parkinson's disease: Analysis of "out-of-place" population variants as a risk factor. Frontiers in aging neuroscience, 14. p. 921412.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Singleton, Lewis M, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease. EXPERIMENTAL BIOLOGY AND MEDICINE, 247 (18). pp. 1680-1690.

Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2023) Reference LINE-1 insertion polymorphisms correlate with Parkinson's disease progression and differential transcript expression in the PPMI cohort. Scientific reports, 13 (1). p. 13857.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2021) Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression. NPJ PARKINSONS DISEASE, 7 (1). 44-.

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Gorecki, Anastazja M, Bakeberg, Megan C, Theunissen, Frances, Kenna, Jade E, Hoes, Madison E, Pfaff, Abigail L, Akkari, P Anthony, Dunlop, Sarah A, Koks, Sulev ORCID: 0000-0001-6087-6643, Mastaglia, Frank L et al (show 1 more authors) and Anderton, Ryan S (2020) Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson's Disease. FRONTIERS IN AGING NEUROSCIENCE, 12. 603849-.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2021) Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes. GENES, 12 (3). 423-.

Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2023) Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals. Experimental biology and medicine (Maywood, N.J.). p. 15353702231209427.

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Marriott, Heather, Kabiljo, Renata, Hunt, Guy P, Khleifat, Ahmad Al, Jones, Ashley, Troakes, Claire, Project MinE ALS Sequencing Consortium, , TargetALS Sequencing Consortium, , Pfaff, Abigail L, Quinn, John P ORCID: 0000-0003-3551-7803 et al (show 5 more authors) , Koks, Sulev ORCID: 0000-0001-6087-6643, Dobson, Richard J, Schwab, Patrick, Al-Chalabi, Ammar and Iacoangeli, Alfredo ORCID: 0000-0002-5280-5017 (2023) Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data. Acta neuropathologica communications, 11 (1). 208-.

Marshall, Jack NG, Lopez, Ana Illera, Pfaff, Abigail L, Koks, Sulev ORCID: 0000-0001-6087-6643, Quinn, John P ORCID: 0000-0003-3551-7803 and Bubb, Vivien J ORCID: 0000-0003-2763-7004 (2021) Variable number tandem repeats - Their emerging role in sickness and health. EXPERIMENTAL BIOLOGY AND MEDICINE, 246 (12). pp. 1368-1376.

Bakeberg, Megan C, Gorecki, Anastazja M, Pfaff, Abigail L, Hoes, Madison E, Koks, Sulev ORCID: 0000-0001-6087-6643, Akkari, P Anthony, Mastaglia, Frank L and Anderton, Ryan S (2021) <i>TOMM40 '523'</i> poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson's disease. NPJ PARKINSONS DISEASE, 7 (1). 56-.

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Bakeberg, Megan C, Hoes, Madison E, Gorecki, Anastazja M, Theunissen, Frances, Pfaff, Abigail L, Kenna, Jade E, Plunkett, Kai, Koks, Sulev ORCID: 0000-0001-6087-6643, Akkari, P Anthony, Mastaglia, Frank L et al (show 1 more authors) and Anderton, Ryan S (2021) The <i>TOMM40 '523'</i> polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease. SCIENTIFIC REPORTS, 11 (1). 6363-.

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Marshall, Jack NG, Fröhlich, Alexander, Li, Li, Pfaff, Abigail L, Middlehurst, Ben, Spargo, Thomas P, Iacoangeli, Alfredo, Lang, Bing, Al-Chalabi, Ammar, Koks, Sulev ORCID: 0000-0001-6087-6643 et al (show 2 more authors) , Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene <i>CFAP410</i> correlates with differential isoform expression. Frontiers in molecular neuroscience, 15. p. 954928.