Martin Tristani‐Firouzi

The paper examines challenges in clinical roles during rapid genome sequencing in NICUs, identifying ambiguities in subspecialist consultations and responsibilities.

The paper evaluates Pheno+, an EHR-integrated tool for automated phenotyping, finding it has good usability but requires curation to reduce errors and reshape clinical workflows.

This study evaluates a universal whole-genome sequencing protocol in a cardiac intensive care unit, finding that 19.4% of neonates with congenital heart defects had clinically relevant variants identified.

The paper identifies a 2:1 male offspring ratio in a human family, suggesting potential segregation distortion caused by a distorting Y-chromosome.

This study identifies DNA methylation and gene expression changes in heart failure patients before and after LVAD therapy, linking extracellular matrix and cytoskeletal remodeling to myocardial recovery.

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

The paper evaluates MPSE's performance in prioritizing NICU newborns for WGS within 48 hours using various ML classifiers, CNLP tools, and data types, finding high accuracy and flexibility.

EpiFlow enables multiparametric analysis of histone PTMs in whole cells using spectral flow cytometry, revealing chromatin state variations in neural progenitor cells.

This study identifies barriers to genetic testing in cardiac care by surveying providers, finding insurance issues and specialty differences affect testing uptake.

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

The paper examines how genetic, demographic, and clinical factors interact to influence neurodevelopmental outcomes in children with single ventricle heart disease.

This paper estimates offspring genetic risk scores from parental DNA and finds that they can be accurately estimated with percent errors below 10% for most traits.

The paper establishes variant filtering guidelines for rare disease studies and estimates candidate variant yields for different inheritance modes using slivar software.

This study shows that inhibiting Notch signaling rescues cardiovascular defects in zebrafish with Kmt2d mutations, linking Kmt2d to vasculogenesis in Kabuki Syndrome.

The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.

This study shows that human amniocytes can be reprogrammed into cardiomyocytes via iPSC intermediates, but direct reprogramming fails due to transcriptional repression.

The paper introduces MEM, a method to identify deletion CNVs in WES and WGS trio data by clustering Mendelian errors, achieving high validation rates and detecting additional de novo deletions and contamination.