Author

Zandrè Bruwer

University of Cape TownORCID 0000-0002-6594-2512Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 3 shared Christina Anne Austin-TseiD· 3 shared Emily O’HeiriD· 3 shared Ikeoluwa Osei‐OwusuiD· 3 shared Kirsten Ann DonaldiD· 3 shared Moriel Singer‐BerkiD· 3 shared Alan H. BeggsiD· 2 shared Alba Sanchis‐JuaniD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Mugdha Singh, Sarah L. Stenton, Emily Groopman, Moriel Singer‐Berk, Jialan Ma, Sanaa Choufani, Emily O’Heir, Stephanie P. DiTroia, Ikeoluwa Osei‐Owusu, Lynn S. Pais, Gabrielle Lemire, Melanie O’Leary, Christina Anne Austin-Tse, Casie A. Genetti, Katherine N. Anderson, , Sanna Gudmundsson

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

medRxiv · Oct 7, 2026 · PreprintGenetic & Genomic Medicine

NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa

Patricia Kipkemoi, Emily O’Heir, Mutaz Amin, Sarah L. Stenton, William Baddoo, Harrison Brand, Zandrè Bruwer, Sam Bryant, Eunice Chepkemoi, Björn U. Christ, Emma Eastman, Claire Fourie, Jack M. Fu, Alice Galvin, Stacey J. Hall, , Elise Robinson

The paper presents genetic and phenotypic data from 521 children with neurodevelopmental disorders in Kenya and South Africa, highlighting high genetic diagnosis rates linked to environmental risk factors.

medRxiv · May 6, 2026 · PreprintGenetic & Genomic Medicine

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha M. Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina M. England, Julia K. Goodrich, Lynn S. Pais, Christina Anne Austin-Tse, Stephanie P. DiTroia, Emily O’Heir, Vijay S. Ganesh, , Anne O’Donnell‐Luria

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

The American Journal of Human Genetics · Apr 1, 2024Peer-reviewedGenetic & Genomic Medicine