Author

Mariel Wissmann

Broad Institute

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Liam D. CatoiD· 2 shared Vijay G. SankaraniD· 2 shared Adam S. ButterworthiD· 1 shared Adriana MendeziD· 1 shared Aitzkoa Lopez de Lapuente PortillaiD· 1 shared Alan H. BeggsiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Allison E. Ashley‐KochiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Liam D. CatoORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

C. Guo, Uma P. Arora, Xiaoheng Cheng, Wanying Xu, Liam D. Cato, Rick Li, Henry Y. Lu, Andrew Lee, Fulong Yu, Gaurav Agarwal, Peng Lyu, Tianyi Ye, Mateusz Antoszewski, Mariel Wissmann, Baraka Stewart Mkumbe, , Vijay G. Sankaran

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Nature · Sep 30, 2026Peer-reviewedGenetic & Genomic Medicine

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki, Mariel Wissmann, Wathone Win, S J White, Ben Weisburd, Leigh B. Waddell, Jeffrey M. Verboon, Grace E. VanNoy, Ana Töpf, Tiong Yang Tan, Volker W. Straub, Sarah L. Stenton, Hana Snow, , Anne O’Donnell‐Luria

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

medRxiv · Aug 8, 2023 · PreprintGenetic & Genomic Medicine