Author

Rivka Birnbaum

Hadassah Medical Center

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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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Hagar Mor‐ShakediD· 2 shared Tamar HareliD· 2 shared Adi Levy-Memo· 1 shared Ann SaadaiD· 1 shared Avraham Shaag· 1 shared Carol PerelmaniD· 1 shared Chaggai RosenbluhiD· 1 shared Dov Popper· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hagar Mor‐ShakedORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Exome-based Preconception Carrier Screening for the Mexican Jewish Community; Yields and Implications

Rivka Birnbaum, Kamila Lee, Teresa Metta-Harari, Sylvia Harari-Arakindji, Shiri Gershon-Naamat, Israel Antman, Jacobo Borovoy-Gurvich, Elias Elias Charua- Levy, Paola Mendelsberg-Fishbein, Carol Perelman, Sarah Weissman, Dov Popper, Tamar Harel, Orly N Elpeleg, Talía Wegman-Ostrosky, Hagar Mor‐Shaked

This study uses exome sequencing to identify genetic variants in the Mexican Jewish Community, finding higher rates of carrier status and novel alleles compared to standard panels.

medRxiv · Oct 23, 2026 · PreprintGenetic & Genomic Medicine

In vitro splice-switching oligonucleotide rescues aberrant GFM2 pseudoexon inclusion and restores mitochondrial activity

Shira Gross, Rivka Birnbaum, Nava Shaul Lotan, Hagar Mor‐Shaked, Joshua Manor, Avraham Shaag, Chaggai Rosenbluh, Adi Levy-Memo, Shira Yanovsky‐Dagan, Ann Saada, Tamar Harel

This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.

medRxiv · Jun 1, 2026 · PreprintGenetic & Genomic Medicine