Bernice E. Morrow

Prevalence and spectrum of congenital heart disease in individuals with distal chromosome 22q11.22-23 deletions

This study examines congenital heart disease in individuals with distal 22q11.22-23 deletions, finding lower prevalence compared to proximal deletions and identifying specific cardiac anomalies.

scDAPP: a comprehensive single-cell transcriptomics analysis pipeline optimized for cross-group comparison

scDAPP provides an automated R-based pipeline for comparative single-cell transcriptomics analysis across groups, generating comprehensive results and visualizations.

Optically Mapped Black Genomes: Distinct Structures and 22q11.2 Deletion Syndrome Mechanisms

The paper analyzes optical mapping data from Black and white genomes to reveal structural differences in 22q11.2 low copy repeats (LCR22s) and their potential role in the lower prevalence of 22q11.2DS in Black individuals.

Crk/Crkl regulates early angiogenesis in mouse embryos by accelerating endothelial cell maturation

This study shows that Crk and Crkl are essential for early angiogenesis in mouse embryos by regulating endothelial cell maturation and vascular remodeling.

An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide conjugated antibodies

The paper develops NuHash, a method for multiplexing snATAC-seq using oligonucleotide-conjugated antibodies, achieving high demultiplexing accuracy with human and mouse samples.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression

The paper examines platelet parameters in 22q11.2 deletion syndrome patients, finding that deletion status of GP1BB, not surface expression, determines platelet counts and that counts decrease with age.

Single cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell deployment and progression

The paper uses single-cell RNA-sequencing to study how Tbx1 inactivation affects cardiac neural crest cell differentiation and aortic arch development in mice.

Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in the murine cardiopharyngeal mesoderm

This study identifies a Tbx1-dependent multilineage primed population in the murine cardiopharyngeal mesoderm using single-cell RNA-sequencing and shows its role in cardiac and skeletal muscle development.

The 22q11 low copy repeats are characterized by unprecedented size and structure variability

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

Tbx1 and Foxi3 genetically interact in the third pharyngeal pouch endoderm required for thymus and parathyroid development

This study identifies genetic interactions between Tbx1 and Foxi3 in the third pharyngeal pouch endoderm for thymus and parathyroid development, showing their roles in epithelial morphogenesis and tissue restoration.

Spatiotemporal Gene Coexpression and Regulation in Mouse Cardiomyocytes of Early Cardiac Morphogenesis

The paper constructs gene co-expression networks in mouse cardiomyocytes to identify spatiotemporal gene modules and regulatory pathways involved in cardiac morphogenesis.