Bruce D. Gelb

This paper describes a feeder-free method to generate lymphatic endothelial cells from human iPSCs, which are transcriptionally and phenotypically similar to primary fetal LECs.

This study identifies dysregulated TGFβ-ERK signaling as a driver of aberrant extracellular matrix production in Noonan syndrome-associated pulmonary valve stenosis using iPSC models and patient tissue.

This study identifies diagnostic delay in mitochondrial disease as primarily due to missed recognition of canonical features, not testing limitations, and suggests AI/NLP tools for earlier detection.

This study compares the cost-effectiveness of rapid genome sequencing and targeted gene panel testing in critically ill infants, finding early rapid genome sequencing leads to significant cost savings.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

This paper describes a method to generate valvular interstitial cells from human pluripotent stem cells, showing high transcriptional similarity to primary fetal VICs and recapitulating disease features in an in vitro model.

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 identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

This paper shows rigosertib reverses hypertrophic cardiomyopathy in RAF1-associated Noonan syndrome using Drosophila, iPSC, and mouse models.

This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.

This study performs genome-wide association analyses of congenital heart defects in Down syndrome, identifying suggestive loci associated with specific heart defect subtypes.

This paper presents an informatic method to identify germline de novo mutations in family trios using consensus across variant callers, achieving high precision and recall.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

This study reviews the cost and clinical utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in pediatric genetic disease diagnosis, finding limited evidence of WGS superiority over WES in changing clinical management.

This study identifies sequential defects in cardiac lineage commitment and maturation in hypoplastic left heart syndrome using multi-omics approaches and iPSC modeling.

This study assesses dysautonomia prevalence and its association with exercise intolerance and cardiac atrophy in patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

GenomeDiver improves genomic diagnosis by enabling clinicians to input structured phenotypic data to guide gene prioritization and enhance collaboration with diagnostic labs.

GUIA is a web-based platform designed to improve the delivery of genomic results to patients and families, showing positive feedback from pilot users.

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.

The paper develops a framework for de novo variant identification using FreeBayes and a neural network, achieving high accuracy in SNVs and indels through validation with Sanger sequencing.

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.

The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.