Loydie Anne Jerome‐Majewska

Developmental pleiotropy revealed by mosaic heterozygous Snrpb deletion underlies CCMS-like axial skeletal defects

This study uses a mouse model to show that Snrpb deletion causes axial skeletal defects by disrupting p53 and RA signaling, without affecting somite patterning.

Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related Syndromes

This study investigates the etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes, identifying gene expression and splicing changes linked to developmental defects.

Pre-Implantation Alcohol Exposure Induces Lasting Sex-Specific DNA Methylation Programming Errors in the Developing Forebrain

This study shows that pre-implantation alcohol exposure causes sex-specific DNA methylation errors in fetal mouse forebrains, potentially contributing to FASD-related neurodevelopmental issues.

Snrpb, the CCMS gene, is required in neural crest cells for proper splicing of genes essential for craniofacial morphogenesis

This study shows that Snrpb mutations cause craniofacial defects by disrupting splicing of genes involved in P53 regulation and craniofacial development.

Mis-splicing of Mdm2 leads to increased P53-activity and craniofacial defects in a MFDM Eftud2 mutant mouse model

This study shows that EFTUD2 mutations cause mis-splicing of Mdm2, leading to increased P53 activity and craniofacial defects, which can be mitigated by P53 inhibitors.

Re-Evaluating One-step Generation of Mice Carrying Conditional Alleles by CRISPR-Cas9-Mediated Genome Editing Technology

The paper re-evaluates the efficiency of a CRISPR-Cas9 method for generating conditional knockout alleles in mice, finding very low success rates and high rates of undesired alleles.

Loss of function mutation of mouse Snap29 on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients

This study shows that a Snap29 loss-of-function mutation on a mixed genetic background in mice replicates multiple abnormalities seen in CEDNIK and 22q11.2DS patients, including skin, neurological, and fertility issues.