Courtney E. French

This study evaluates the diagnostic yield of long-read sequencing in pediatric sensorineural hearing loss, finding it detects structural variants missed by short-read sequencing.

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

The paper identifies NMD-targeted transcripts in human cells by analyzing RNA-Seq data from NMD-inhibited HeLa cells, revealing broad regulatory potential of alternative splicing coupled with NMD.

The paper characterizes a regulatory network of splicing factors through alternative splicing coupled with NMD, revealing extensive interactions and NMD targeting of splicing factors.

The paper uses polysome fractionation data to identify features of NMD-targeted transcripts, finding the EJC model is a strong predictor while long 3 UTRs are not.

This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.