Casey A. Gifford

Neural Crest-Derived Endocardial Cells Required for Heart Valve Development

The paper identifies a rare population of neural crest-derived endocardial cells essential for heart valve development in mice and humans, showing their role in valve morphogenesis through Pthlh signaling.

The ER membrane protein complex acts as a chaperone to promote the biogenesis of multi-bundle membrane proteins

This study shows the ER membrane protein complex (EMC) acts as a chaperone to facilitate the assembly of voltage-gated calcium channels during their biogenesis.

Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts

The paper develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.

Insertion of an invading retrovirus regulates a novel color trait in swordtail fish

This study identifies a retrovirus insertion near the alkal2a gene as the genetic basis for a novel iridescent color trait in swordtail fish, showing its role in chromatin changes and predator interaction signals.

Decoding Chromatin Dynamics in Cardiac Organoids Reveals Genetic Drivers of Human Heart Development and Disease

The paper uses a single-cell multi-omic atlas and deep learning to identify cis-regulatory elements and genetic drivers of heart development and disease.

Interpreting variants associated with congenital heart disease with a regulatory map of the human fetal heart

This study creates a gene regulation map of the human fetal heart to interpret genetic variants associated with congenital heart disease and cardiac traits, identifying valvular interstitial cells as key regulators.

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

Single Cell Multimodal Analyses Reveal Epigenomic and Transcriptomic Basis for Birth Defects in Maternal Diabetes

The paper uses single-cell multimodal analyses to show how maternal diabetes alters epigenomic and transcriptomic states in cardiac and craniofacial progenitors, leading to developmental defects.

Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy

The paper identifies a novel mtDNA variant m.12148T>C associated with multisystem dysfunction and highlights the importance of tissue-specific heteroplasmy analysis.

Development in context: interferon response networks regulate human fetal thymic epithelial cell differentiation

This study uses single-cell transcriptomics to identify gene regulatory networks and lineage trajectories in human fetal thymic epithelial cells, revealing interferon response pathways that distinguish thymic epithelium from other anterior foregut-derived organs.

Single Cell Epigenetics Reveal Cell-Cell Communication Networks in Normal and Abnormal Cardiac Morphogenesis

The paper uses single-cell epigenomics and machine learning to model cell-cell communication networks in cardiac development and identify dysregulation in TBX1 deletion.

SARS-CoV-2 susceptibility and ACE2 gene variations within diverse ethnic backgrounds

The paper analyzes ACE2 gene variants in a diverse UK cohort to assess their association with SARS-CoV-2 infection risk and severity, identifying variants that affect ACE2 expression and viral receptor affinity.

A Transcriptional Switch Governing Fibroblast Plasticity Underlies Reversibility of Chronic Heart Disease

The paper identifies a reversible transcriptional switch in cardiac fibroblasts that governs fibroblast plasticity and contributes to chronic heart disease, with MEOX1 as a key regulator.

Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes

Single-cell transcriptome analysis during cardiogenesis reveals basis for organ level developmental anomalies

The paper uses single-cell RNA sequencing to analyze cardiac progenitor cells during normal and abnormal cardiogenesis, identifying transcriptional changes linked to congenital heart defects.

Unique Transcription Factor Functions Regulate Epigenetic and Transcriptional Dynamics During Cardiac Reprogramming

This study investigates how Gata4, Mef2c, and Tbx5 drive cardiac reprogramming by analyzing transcriptomic and epigenomic changes in fibroblasts.

Oligogenic inheritance of congenital heart disease involving a NKX2-5 modifier

The paper shows that a congenital heart defect can result from three inherited heterozygous missense variants in MYH7, MKL2, and NKX2-5.