Author

F. J. Lopez

Genomics England

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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Organism:human· 5 Approach:statistical model· 5 Research Focus:differential expression· 4 Assay:whole-genome sequencing· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:CRISPR screen· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Christine PatchiD· 5 shared Christopher R. BoustrediD· 5 shared D. Perez-Gil· 5 shared Dalia KasperavičiūtėiD· 5 shared Fiona Maleady-Crowe· 5 shared Helen K. BrittainiD· 5 shared John C. Ambrose· 5 shared John PullingeriD· 5 shared

Activity by Year

2020-2023 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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5 shared papersGenetic & Genomic Medicine

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5 papers

Recent·Most cited

Age and Sex Differences in the Genetics of Cardiomyopathy

Oyediran Akinrinade, Robert Lesurf, John C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, Christopher R. Boustred, Helen K. Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam P Giess, A. Hamblin, Shirley J. Henderson, Tim Hubbard, , Seema R. Mital

This study identifies genetic differences between pediatric and adult cardiomyopathy, finding more constrained variants in childhood cases and female patients.

Journal of Cardiovascular Translational Research · Jul 21, 2023Peer-reviewedGenetic & Genomic Medicine

Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Eleanor G. Seaby, Neil Thomas, Amy Webb, Helen K. Brittain, Ana Lisa Taylor Tavares, John C. Ambrose, Prabhu Arumugam, Roel P. J. Bevers, Marta Bleda, F Boardman-Pretty, Christopher R. Boustred, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam P Giess, , Sarah Ennis

The paper introduces DeNovoLOEUF, a method to identify diagnostic variants in genome sequencing data, achieving 96% positive predictive value and uncovering 39 missed diagnoses in the 100,000 Genomes Project.

Human Genetics · Dec 7, 2022Peer-reviewedGenetic & Genomic Medicine

An intermediate effect size variant in UMOD confers risk for chronic kidney disease

Eric Gregory Olinger, Céline Schaeffer, Kendrah O. Kidd, Elhussein A. E. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly R. Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel Guido Fuster, Andreas David Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, , Magdalena Zarowiecki

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

Proceedings of the National Academy of Sciences · Aug 10, 2022Peer-reviewedGenetic & Genomic Medicine

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, , R. Sultana

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

npj Genomic Medicine · Mar 14, 2022Peer-reviewedGenetic & Genomic Medicine

Human and mouse essentiality screens as a resource for disease gene discovery

Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann Marie Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih‐Wei Hsu, Audrey E. Christiansen, Denise Grant Lanza, , A. Siddiq

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

Nature Communications · Jan 31, 2020Peer-reviewedGenomics