Susan M. White

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

The paper identifies and characterizes novel PIEZO1 variants associated with GLD, showing they impair mechanosensitivity and demonstrating small-molecule rescue of channel function.

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

The paper identifies a deep intronic variant in NDUFB10 causing a cryptic exon and isolated Complex I deficiency through RNA sequencing in two affected siblings.

This study uses whole genome sequencing to rapidly diagnose SCA36 in a family, demonstrating the feasibility and cost-effectiveness of WGS for repeat expansion detection.

This paper introduces a pooled-parent exome sequencing strategy to prioritize de novo variants in genetic disease, showing it effectively filters variants while reducing costs.

This study compares diagnostic sensitivity and clinical utility of WGS, WES, and CMA in children with suspected genetic diseases, finding WGS/WES more effective than CMA.