Galuh Astuti

This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.

This study identifies excessive RAS/MAPK pathway activation as a cause of adult-onset motor axonal degeneration in Drosophila, showing that inhibiting the pathway can rescue neurodegenerative phenotypes.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.