Author

Randy Le

Children's 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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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Amy CrunkiD· 1 shared Anita KabahiziiD· 1 shared Carlos A. GadiaiD· 1 shared Graciela CarrolloiD· 1 shared Harrison HiggsiD· 1 shared Jérémie MortreuxiD· 1 shared Jill A. Rosenfeld· 1 shared John PappasiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy CrunkORCID

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1 paper

Recent·Most cited

Expanding clinical and variant spectrum of CBX1-related syndrome: Report of three novel cases

Graciela Carrollo, Shuhei Fujino, Harrison Higgs, Anita Kabahizi, Randy Le, Rachel Rabin, John Pappas, Amy Crunk, Kara Ranguin, Jérémie Mortreux, Marilyn Lackmy, Carlos A. Gadia, Matthew Hoi Kin Chau, Jill A. Rosenfeld, Xi Luo, Kosuke Izumi

This paper reports three novel de novo CBX1 variants in patients with developmental delay and describes genotype-phenotype correlations.

medRxiv · Sep 28, 2026 · PreprintGenetic & Genomic Medicine