Author

Monika Weisz‐Hubshman

Baylor College of MedicineORCID 0000-0002-6826-8535Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Jill Anne RosenfeldiD· 3 shared Undiagnosed Diseases Network· 3 shared Kim C. WorleyiD· 2 shared Shamika KetkariD· 2 shared Alexander HoischeniD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Amy SchneideriD· 1 shared Bekim SadikovićiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jill Anne RosenfeldORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

Sen Zhao, Jefferson C. Sinson, Shenglan Li, Jill Anne Rosenfeld, Gladys E. Zapata, Kristina Macakova, Mezthly Pena, Rebecca L. Maywald, Kim C. Worley, Lindsay Catherine Burrage, Monika Weisz‐Hubshman, Shamika Ketkar, William James Craigen, Lisa Emrick, Undiagnosed Diseases Network, , Pengfei Liu

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

The American Journal of Human Genetics · Oct 10, 2025Peer-reviewedGenetic & Genomic Medicine

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants

Robin Wijngaard, Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill Anne Rosenfeld, Tiphanie P. Vogel, Sarah K. Nicholas, Monika Weisz‐Hubshman, Undiagnosed Diseases Network, Alfredo Cabrera‐Orefice, Bente Siebels, Thomas Mair, Hartmut Schlüter, Ruben L. Smeets, Ronald van Beek, , Sergio Guerrero‐Castillo

The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.

medRxiv · Jun 25, 2025 · PreprintGenetic & Genomic Medicine

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, , Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

Nature Communications · Aug 6, 2024Peer-reviewedGenetic & Genomic Medicine