Author

Helen Booth

University College Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 4 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 5 Organism:human· 5 Approach:statistical model· 5 Assay:GWAS summary statistics· 4 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Ann Millar· 5 shared Ayodeji AdegunsoyeiD· 5 shared Beatriz Guillén‐GuíoiD· 5 shared Brian L. YaspaniD· 5 shared Carlos FloresiD· 5 shared David A. SchwartziD· 5 shared Gauri SainiiD· 5 shared Gisli R. JenkinsiD· 5 shared

Activity by Year

2019-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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5 shared papersGenetic & Genomic Medicine

Ann Millar

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5 papers

Recent·Most cited

Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets

Daniel Chin, Tamara Hernández-Beeftink, Lauren J. Donoghue, Beatriz Guillén‐Guío, Olivia C. Leavy, Ayodeji Adegunsoye, Helen Booth, CleanUP-IPF Investigators of the Pulmonary Trials Cooperative, William A. Fahy, Tasha E. Fingerlin, Bibek Gooptu, Ian P. Hall, Simon Paul Hart, Mike R. Hill, Nik Hirani, , Louise V. Wain

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

European Respiratory Journal · May 21, 2026Peer-reviewedGenetic & Genomic Medicine

Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis

Tamara Hernández-Beeftink, Lauren J. Donoghue, Abril G. Izquierdo, Samuel T Moss, Daniel Chin, Beatriz Guillén‐Guío, Konain Fatima Bhatti, Simon Cameron Biddie, Nick R. G. Shrine, Richard J. Packer, Ayodeji Adegunsoye, Helen Booth, CleanUP-IPF Investigators of the Pulmonary Trials Cooperative, William A. Fahy, Tasha E. Fingerlin, , Louise V. Wain

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

medRxiv · Feb 19, 2026 · PreprintGenetic & Genomic Medicine

Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis

Olivia C. Leavy, Anne Florentine Goemans, Amy Stockwell, Richard J. Allen, Beatriz Guillén‐Guío, Tamara Hernández-Beeftink, Ayodeji Adegunsoye, Helen Booth, CleanUP-IPF Investigators of the Pulmonary Trials Cooperative, Paul Cullinan, William A. Fahy, Tasha E. Fingerlin, Harvinder S Virk, Ian P. Hall, Simon Paul Hart, , Louise V. Wain

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

medRxiv · Jan 12, 2024 · PreprintGenetic & Genomic Medicine

Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis

Beatriz Guillén‐Guío, Megan L. Paynton, Richard J. Allen, D Chin, Lauren J. Donoghue, Amy Stockwell, Olivia C. Leavy, Tamara Hernández-Beeftink, Carl Reynolds, Paul Cullinan, Fernando J. Martínez, CleanUP-IPF Investigators of the Pulmonary Trials Cooperative, Helen Booth, William A. Fahy, Ian P. Hall, , Edward J. Hollox

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

ERJ Open Research · Dec 21, 2023Peer-reviewedGenetic & Genomic Medicine

Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

Richard J. Allen, Beatriz Guillén‐Guío, Justin M. Oldham, Shwu‐Fan Ma, Amy Dressen, Megan L. Paynton, Luke M. Kraven, Ma’en Obeidat, Xuan Li, Michael Ng, Rebecca Braybrooke, María Molina‐Molina, Brian D. Hobbs, Rachel K. Putman, Phuwanat Sakornsakolpat, , Louise V. Wain

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.

American Journal of Respiratory and Critical Care Medicine · Nov 11, 2019Peer-reviewedGenomics