Author

Shoshi Shpitzen

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· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Avital Eilat· 1 shared Ayelet ShaueriD· 1 shared Donna R. ZwasiD· 1 shared Orr TomeriD· 1 shared Ronen Y. DurstiD· 1 shared Ronit Hoffman-Lipschuetz· 1 shared Smadar Horowitz CederboimiD· 1 shared Tamar HareliD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Avital Eilat

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1 paper

Recent·Most cited

Reconsidering Silent Variant Unveils SGCA's Role in Atypical Cardiomyopathy

Smadar Horowitz Cederboim, Ronit Hoffman-Lipschuetz, Ronen Y. Durst, Tamar Harel, Shoshi Shpitzen, Ayelet Shauer, Donna R. Zwas, Avital Eilat, Orr Tomer, Vardiella Meiner

The paper identifies a synonymous variant in SGCA causing atypical cardiomyopathy in LGMDR3 patients, highlighting the need for thorough variant interpretation in consanguineous populations.

medRxiv · Feb 10, 2025 · PreprintGenetic & Genomic Medicine