Sara A. Wirth

CREPE (CREate Primers and Evaluate): a computational tool for large-scale primer design and specificity analysis

CREPE is a computational tool that designs and evaluates primers for large-scale PCR, achieving over 90% successful amplification for acceptable primers.

Exon-skipping and genetic compensation due to biallelic mutations in the neurodevelopmental disease gene LNPK

This study identifies compound heterozygous splice site mutations in LNPK causing neurodevelopmental syndrome, showing exon-skipping and genetic compensation through NMD pathway inhibition.

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

The paper analyzes sperm mosaic mutations in healthy males, finding that many are stable over time and pose a lifelong transmission risk to offspring.

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

The paper quantifies autism recurrence risk by detecting paternal sperm mosaicism through single molecule genotyping and whole genome sequencing.