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

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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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

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2 shared papersGenetic & Genomic Medicine

Liam D. CatoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNaturePeer-reviewedSep 30, 2026

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

C. Guo, Uma P. Arora, Xiaoheng Cheng…·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.

DOI 10.1038/s41586-026-11113-2

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 8, 2023

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki…·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.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky