Author

Johan Martijn Bos

Mayo ClinicORCID 0000-0002-3635-2003Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 3 Assay:bulk RNA-seq· 2 Research Focus:benchmarking· 1 Assay:ChIP-seq· 1 Research Focus:database / resource· 1 Assay:electronic health records· 1

Frequent Co-Authors

Michael John AckermaniD· 4 shared John R. GiudicessiiD· 3 shared Cristobal G. dos RemediosiD· 2 shared David J. TesteriD· 2 shared Evelyn T. Kim· 2 shared Jonathan Robert SkinneriD· 2 shared Joseph A. DearaniiD· 2 shared Joseph John MaleszewskiiD· 2 shared

Activity by Year

2024-2024 · peak 4/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Michael John AckermanORCID

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Author profile →

4 papers

Recent·Most cited

Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification

Matthew J. O’Neill, Chai‐Ann Ng, Takanori Aizawa, Luca Sala, Sahej Bains, Annika Winbo, Rizwan Ullah, Qianyi Shen, Chek-Ying Tan, Krystian A. Kozek, Loren R. Vanags, Devyn Mitchell, Alex Shen, Yuko Wada, Asami Kashiwa, , Brett M. Kroncke

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

Circulation · Sep 24, 2024Peer-reviewedGenetic & Genomic Medicine

A Multi-Omics Atlas of Sex-Specific Differences in Obstructive Hypertrophic Cardiomyopathy

Ramin Garmany, Surendra Dasari, Johan Martijn Bos, Evelyn T. Kim, Martina Gluscevic, Katherine A. Martinez, David J. Tester, Cristobal G. dos Remedios, Joseph John Maleszewski, Joseph A. Dearani, Steve R. Ommen, Jeffrey Benjamin Geske, John R. Giudicessi, Michael John Ackerman

This study identifies sex-specific differences in multi-omics profiles of obstructive hypertrophic cardiomyopathy patients compared to controls.

Journal of Molecular and Cellular Cardiology · Sep 8, 2024Peer-reviewedBioinformatics

Histone Modifications and miRNA Perturbations Contribute to Transcriptional Dysregulation of Hypertrophy in Obstructive Hypertrophic Cardiomyopathy

Ramin Garmany, Surendra Dasari, Johan Martijn Bos, Evelyn T. Kim, David J. Tester, Cristobal G. dos Remedios, Joseph John Maleszewski, Keith D. Robertson, Joseph A. Dearani, Steve R. Ommen, John R. Giudicessi, Michael John Ackerman

The paper identifies miRNA and histone modifications as contributors to transcriptional downregulation of hypertrophy pathways in obstructive hypertrophic cardiomyopathy.

bioRxiv · May 9, 2024 · PreprintBioinformatics

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

Alexandra Butters, Kate L. Thomson, Francesca Harrington, Natasha Henden, Karen McGuire, Alicia B. Byrne, Samantha J. Bryen, Kathryn A. McGurk, Megan Leask, Michael John Ackerman, John James Atherton, Johan Martijn Bos, Colleen A. Caleshu, Sharlene M. Day, Kyla E. Dunn, , Jodie Ingles

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

medRxiv · Feb 8, 2024 · PreprintGenetic & Genomic Medicine