Elizabeth J. Bhoj

Pediatrics | Medical Genetics

34th St. & Civic Center Blvd
The Children's Hospital Of Philadelphia, Room 9nw55
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 144 publications

A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.

A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.

Journal: bioRxiv : the preprint server for biology

Published: May 25, 2026

Unique mineralization pattern revealed in TBCK syndrome mouse model.

Unique mineralization pattern revealed in TBCK syndrome mouse model.

Journal: bioRxiv : the preprint server for biology

Published: February 27, 2026

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Journal: medRxiv : the preprint server for health sciences

Published: January 02, 2026

Embryodysgenesis of the Lids and Orbit.

Embryodysgenesis of the Lids and Orbit.

Journal: Eye (London, England)

Published: November 30, 2025

Neonatal Hypopituitarism.

Neonatal Hypopituitarism.

Journal: NeoReviews

Published: October 14, 2025

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

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

Journal: bioRxiv : the preprint server for biology

Published: October 03, 2025

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

Journal: Research square

Published: August 20, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: August 12, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.

Journal: Molecular genetics & genomic medicine

Published: July 10, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 09, 2025

Showing 1-12 of 144

Last Updated: 09/26/2026