Author

Joanne Mason

Constellation Pharmaceuticals (United States)

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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Genomics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1

Frequent Co-Authors

Andrew D. DevereauiD· 3 shared Angela D. HambliniD· 3 shared Christine PatchiD· 3 shared Christopher R. BoustrediD· 3 shared D. Perez-Gil· 3 shared Dalia KasperavičiūtėiD· 3 shared Damian P. SmedleyiD· 3 shared Dimitris PolychronopoulosiD· 3 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Andrew D. DevereauORCID

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4 papers

Recent·Most cited

Accurate simultaneous sequencing of genetic and epigenetic bases in DNA

Jens Füllgrabe, Walraj S. Gosal, Páidí Creed, Sidong Liu, Casper K. Lumby, David J. Morley, Tobias W. B. Ost, Albert J. Vilella, Shirong Yu, Helen Bignell, Philippa Burns, Tom Charlesworth, Beiyuan Fu, Howerd Fordham, Nicholas J. Harding, , Shankar Balasubramanian

This paper introduces a method to simultaneously sequence genetic and epigenetic bases in DNA with single-base resolution, demonstrating accuracy and versatility in human genomic and cell-free DNA samples.

Nature Biotechnology · Feb 6, 2023Peer-reviewedGenomics

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

Dissecting mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Ching Chiek Koh, Arjun Scott Nanda, Andrea Degasperi, Katie Urgo, Theodoros I. Roumeliotis, Chukwuma A. Agu, Cherif Badja, Sophie Momen, Jamie Young, Tauanne Dias Amarante, Lucy E. Side, Glen W. Brice, Vanesa Pérez‐Alonso, Daniel Rueda, , Magdalena Zarowiecki

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

Nature Cancer · Apr 26, 2021Peer-reviewedGenomics

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