Elizabeth Joyce Bhoj

50PUBLICATIONS
266CO-AUTHORS
Formal methods for softwareNeurogeneticsNeonatologyEpigenetics (incl. genome methylation and epigenomics)Paediatrics not elsewhere classified
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (50)

|Oct 23, 2026
MAJIQ V3: Scalable and accurate RNA splicing analysis with splicegraph algebra and improved intron retention modeling.

|May 25, 2026
A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.

|Apr 24, 2026
Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.

|Feb 27, 2026
Unique mineralization pattern revealed in TBCK syndrome mouse model.

Kaitlin A Katsura, Yuchen Jiang, Marius Didziokas

|Feb 14, 2026
A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

Annabel K Sangree, Rajesh Angireddy, Janardhan P Bhattarai

|Oct 03, 2025
TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.

Abdias Diaz-Rosado, Kelly Clark, Rajesh Angireddy

Pageof 9

Frequent Collaborators

13 joint publications

Dong Li

9 joint publications

Emily E Lubin

7 joint publications

Kelly J Clark

7 joint publications

Dana Layo-Carris