Elizabeth J. K. Bhoj

This paper describes a novel mouse model of Bryant-Li-Bhoj Syndrome that recapitulates key developmental and behavioral phenotypes, providing a platform for therapeutic testing.

This study creates a mouse model of TBCK Syndrome by knocking out the Tbck gene, revealing early neurodevelopmental phenotypes and systemic alterations consistent with the human disorder.

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

The paper uses a multimodal framework to reveal unique mineralization defects in a TBCK syndrome mouse model, identifying early-stage changes in enamel and dentin composition.

This paper uses an iPSC model of BLBS to show that the H3.3 L48R variant disrupts chromatin dynamics, neuronal differentiation, and electrophysiological function.

This study uses multi-omics analyses to show that TBCK deficiency disrupts ribosomal function, RNA splicing, and miRNA networks in TBCK-/- cells, providing insights into the molecular mechanisms of the disorder.

This study investigates how BLBS-causing H3.3 mutations affect H3K36 methylation and effector protein binding, revealing molecular similarities across mutations.

MAJIQ-CLIN improves the detection of Mendelian disease-causing variants from RNA-Seq by addressing splicing aberrations, showing better accuracy and efficiency than existing tools.

NeuroTri2-VISDOT provides a web-based tool to explore second trimester human single-cell RNA sequencing data for Mendelian neurodevelopmental disorders, aiding in model system selection.

This study examines mechanical and chemical properties of developing enamel, dentin, and bone in mouse mandibles using multi-modal techniques and finds distinct patterns of changes driven by mineral composition.

The paper establishes a human cell model for TBCK syndrome, showing mitochondrial dysfunction and partial rescue with a fission inhibitor.

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

The paper evaluates Mendelian causes of pediatric neurodegenerative disorders in a cohort of 69 patients, finding 42 genetic diagnoses and 32 unique disorders.

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

The paper assesses how RNA-seq from clinically-accessible tissues represents splicing in non-accessible tissues and introduces a resource to explore these findings.

The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.