Personal information

Other IDs

Scopus Author ID: 57218901788

Countries

Australia

Activities

Collapse all

Employment (3)

Murdoch University/Perron Institute: Perth, WA, AU

2019-02-18 to present | Post Doctoral Researcher
Employment
Source: Self-asserted source
Abigail Pfaff

University of Liverpool: Liverpool, Merseyside, GB

2016-10-01 to 2018-12-31 | Research Associate
Employment
Source: Self-asserted source
Abigail Pfaff

Queen's University Belfast: Belfast, Belfast, GB

2014-03-10 to 2016-09 | Research Associate
Employment
Source: Self-asserted source
Abigail Pfaff

Education and qualifications (2)

University of Liverpool: Liverpool, Merseyside, GB

2010-09 to 2013-10 | PhD
Qualification
Source: Self-asserted source
Abigail Pfaff

University of Liverpool: Liverpool, Merseyside, GB

2005-09 to 2008-07 | BSc
Qualification
Source: Self-asserted source
Abigail Pfaff

Works (31)

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
2023-07-17 | Journal article
DOI: 10.3390/ijms241411548
Contributors: Abigail L. Pfaff; Vivien J. Bubb; John P. Quinn; Sulev Koks
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Analysis of the Retrotransposon SINE-VNTR-Alu (SVA) Polymorphisms in the Genetics and Pathophysiology of Complex Diseases

Neuromethods
2022 | Book chapter
DOI: 10.1007/978-1-0716-2357-2_4
EID:

2-s2.0-85131307947

Part of ISSN: 19406045 08932336
Contributors: Kõks, S.; Singleton, L.M.; Quinn, J.P.; Bubb, V.J.; Pfaff, A.L.
Source: Self-asserted source
Abigail Pfaff via Scopus - Elsevier

Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis

Molecular Brain
2022-12 | Journal article
DOI: 10.1186/s13041-022-00914-x
Contributors: Abigail L. Pfaff; Vivien J. Bubb; John P. Quinn; Sulev Koks
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Mechanisms of disease-associated SINE-VNTR-Alus

Experimental Biology and Medicine
2022-05 | Journal article
DOI: 10.1177/15353702221082612
Contributors: Abigail L Pfaff; Lewis M Singleton; Sulev Kõks
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Longitudinal intronic RNA-Seq analysis of Parkinson’s disease patients reveals disease-specific nascent transcription

Experimental Biology and Medicine
2022-03-15 | Journal article
DOI: 10.1177/15353702221081027
Part of ISSN: 1535-3702
Part of ISSN: 1535-3699
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus

Frontiers in Molecular Neuroscience
2022-03-09 | Journal article
DOI: 10.3389/fnmol.2022.815695
Part of ISSN: 1662-5099
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

Innovative approaches for treatment of osteosarcoma

Experimental Biology and Medicine
2022-02 | Journal article
DOI: 10.1177/15353702211067718
Contributors: Emel Rothzerg; Abigail L Pfaff; Sulev Koks
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Characterisation of the function of a SINE-VNTR-Alu retrotransposon to modulate isoform expression at the MAPT locus

ResearchSquare
2021 | Other
DOI: 10.21203/rs.3.rs-1065189
EID:

2-s2.0-85131918665
Contributors: Fröhlich, A.; Pfaff, A.L.; Bubb, V.J.; Koks, S.; Quinn, J.P.
Source: Self-asserted source
Abigail Pfaff via Scopus - Elsevier

Longitudinal intronic RNA-Seq analysis of Parkinson's Disease patients reveals disease-specific nascent transcription

medRxiv
2021 | Other
DOI: 10.1101/2021.11.03.21265851
EID:

2-s2.0-85125611071
Contributors: Kõks, S.; Pfaff, A.L.; Bubb, V.J.; Quinn, J.P.
Source: Self-asserted source
Abigail Pfaff via Scopus - Elsevier

The East Asian Parkinson Disease Genomics Consortium

The Lancet Neurology
2021 | Journal article
DOI: 10.1016/S1474-4422(21)00373-2
EID:

2-s2.0-85119184469

Part of ISSN: 14744465 14744422
Contributors: Mok, K.Y.; Guo, J.-F.; Tang, B.-S.; Shang, H.; Li, C.; Nguyen, H.T.T.; Vu, T.T.H.; Nguyen, A.T.; Ip, N.Y.; Fu, A.K. et al.
Source: Self-asserted source
Abigail Pfaff via Scopus - Elsevier

The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease

Scientific Reports
2021-12 | Journal article
DOI: 10.1038/s41598-021-85510-0
Part of ISSN: 2045-2322
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

TOMM40 ‘523’ poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson’s disease

npj Parkinson's Disease
2021-07-07 | Journal article
DOI: 10.1038/s41531-021-00200-y
Contributors: Megan C. Bakeberg; Anastazja M. Gorecki; Abigail L. Pfaff; Madison E. Hoes; Sulev Kõks; P. Anthony Akkari; Frank L. Mastaglia; Ryan S. Anderton
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome

International Journal of Molecular Sciences
2021-06-12 | Journal article
DOI: 10.3390/ijms22126319
Contributors: Sulev Koks; Abigail L. Pfaff; Vivien J. Bubb; John P. Quinn
Source: check_circle
Crossref
grade
Preferred source (of 3)‎

Variable number tandem repeats – Their emerging role in sickness and health

Experimental Biology and Medicine
2021-06-01 | Journal article
DOI: 10.1177/15353702211003511
Contributors: Jack NG Marshall; Ana Illera Lopez; Abigail L Pfaff; Sulev Koks; John P Quinn; Vivien J Bubb
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression

npj Parkinson's Disease
2021-05-25 | Journal article
DOI: 10.1038/s41531-021-00189-4
Contributors: Abigail L. Pfaff; Vivien J. Bubb; John P. Quinn; Sulev Koks
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes.

Genes
2021-03-15 | Journal article
DOI: 10.3390/genes12030423
PMID: 33804213
PMC: PMC7999745
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

Reference SVA insertion polymorphisms are associated with dopaminergic degeneration in Parkinson’s Disease and differential gene expression in the PPMI cohort

ResearchSquare
2020 | Other
DOI: 10.21203/rs.3.rs-41600
EID:

2-s2.0-85133743529
Contributors: Pfaff, A.L.; Bubb, V.J.; Quinn, J.P.; Koks, S.
Source: Self-asserted source
Abigail Pfaff via Scopus - Elsevier

Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis

Molecular Brain
2020-12 | Journal article
DOI: 10.1186/s13041-020-00694-2
Part of ISSN: 1756-6606
Source: Self-asserted source
Abigail Pfaff

Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson's Disease

Frontiers in Aging Neuroscience
2020-11-17 | Journal article
DOI: 10.3389/fnagi.2020.603849
Part of ISSN: 1663-4365
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

At the dawn of the transcriptomic medicine

Experimental Biology and Medicine
2020-09-11 | Journal article
DOI: 10.1177/1535370220954788
Part of ISSN: 1535-3702
Part of ISSN: 1535-3699
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

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
2020-09-08 | Journal article
DOI: 10.3390/ijms21186562
Contributors: Abigail L. Pfaff; Vivien J. Bubb; John P. Quinn; Sulev Koks
Source: check_circle
Crossref
grade
Preferred source (of 3)‎

Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort

Neurology Genetics
2020-08 | Journal article
DOI: 10.1212/nxg.0000000000000470
Part of ISSN: 2376-7839
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 3)‎

The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome

International Journal of Molecular Sciences
2019-11-27 | Journal article
DOI: 10.3390/ijms20235977
Contributors: Olympia Gianfrancesco; Bethany Geary; Abigail L. Savage; Kimberley J. Billingsley; Vivien J. Bubb; John P. Quinn
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Non-coding genetic variation shaping mental health

Current Opinion in Psychology
2019-06 | Journal article
DOI: 10.1016/j.copsyc.2018.07.006
Part of ISSN: 2352-250X
Source: Self-asserted source
Abigail Pfaff

Retrotransposons in the development and progression of amyotrophic lateral sclerosis

Journal of Neurology, Neurosurgery & Psychiatry
2019-03 | Journal article
DOI: 10.1136/jnnp-2018-319210
Contributors: Abigail L Savage; Gerald G Schumann; Gerome Breen; Vivien J Bubb; Ammar Al-Chalabi; John P Quinn
Source: check_circle
Crossref

The RNA processing factors THRAP3 and BCLAF1 promote the DNA damage response through selective mRNA splicing and nuclear export

Nucleic Acids Research
2017-12-15 | Journal article
DOI: 10.1093/nar/gkx1046
Part of ISSN: 0305-1048
Part of ISSN: 1362-4962
Source: Self-asserted source
Abigail Pfaff

Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function

Trends in Evolutionary Biology
2017-02-13 | Journal article
DOI: 10.4081/eb.2017.6514
Part of ISSN: 2036-265X
Part of ISSN: 2036-2641
Source: Self-asserted source
Abigail Pfaff

Molecular signatures of mood stabilisers highlight the role of the transcription factor REST/NRSF

Journal of Affective Disorders
2015-02 | Journal article
DOI: 10.1016/j.jad.2014.09.024
Part of ISSN: 0165-0327
Source: Self-asserted source
Abigail Pfaff

An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS

PLoS ONE
2014-03-07 | Journal article
DOI: 10.1371/journal.pone.0090833
Part of ISSN: 1932-6203
Source: Self-asserted source
Abigail Pfaff

Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns

BMC Evolutionary Biology
2013 | Journal article
DOI: 10.1186/1471-2148-13-101
Part of ISSN: 1471-2148
Source: Self-asserted source
Abigail Pfaff

Polymorphic variation as a driver of differential neuropeptide gene expression

Neuropeptides
2013-12 | Journal article
DOI: 10.1016/j.npep.2013.10.003
Part of ISSN: 0143-4179
Source: Self-asserted source
Abigail Pfaff
grade
Preferred source (of 2)‎

Peer review (1 review for 1 publication/grant)

Review activity for Human genetics. (1)
How many people are using ORCID?