Tamar Harel

This paper introduces a variant filtering framework called SMART filtering to improve diagnostic outcomes in genome sequencing by prioritizing non-coding and regulatory variants.

This study uses exome sequencing to identify genetic variants in the Mexican Jewish Community, finding higher rates of carrier status and novel alleles compared to standard panels.

This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.

This study demonstrates that allele-specific antisense oligonucleotides can rescue ATAD3A-associated developmental defects in zebrafish by reducing mutant transcripts.

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

This study corrects a pathogenic ATAD3A variant in iPSCs using CRISPR-Cas9-induced gene conversion without donor templates, showing high efficiency and dependence on HR proteins.

This study evaluates the reproducibility and clinical utility of blood mRNA-based gene signatures for Parkinson's disease classification, finding modest performance due to inter-individual variability.

This study uses zebrafish atad3 knockout models to identify mitochondrial dysfunction as a key mechanism in ATAD3A-related human diseases.

The paper identifies a synonymous variant in SGCA causing atypical cardiomyopathy in LGMDR3 patients, highlighting the need for thorough variant interpretation in consanguineous populations.

The paper identifies a rare TLN1 splice-site variant in a familial SCLS case, linking Talin1 dysfunction to systemic capillary leak syndrome through disrupted endothelial barrier integrity.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.