Michael Duyzend

Expanding reproductive genetic screening through the inclusion of perinatal treatability

The paper evaluates a reproductive genetic screening framework that includes genes with perinatal intervention potential, finding an individual-level number-needed-to-screen of 3.20 using gnomAD and 3.62 using All of Us.

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

Advancing precision care in pregnancy through an actionable fetal findings list

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

Lethal phenotypes in Mendelian disorders

This paper curates human essential genes based on lethality in Mendelian disorders and explores their relationships with constraint metrics and viability data.