Anne O’Donnell‐Luria

The paper characterizes the prevalence and health consequences of uniparental disomy in four million individuals, identifying 675 cases and linking UPD of chromosome 22 to autism.

This paper reports on 38 individuals with KMT2E variants, finding that heterozygous variants cause neurodevelopmental disorders, epilepsy, and variable expressivity by sex.

The paper responds to a critique of their variant filtering method, demonstrating its robustness and highlighting the benefits of using high-resolution variant frequencies for clinical genome interpretation.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.

Sub-genic missense depletion in ExAC anchors MPC, a deleteriousness score; de novo missense variants with MPC ≥ 2 occur in neurodevelopmental cases at 5.79 times the control rate.

The paper presents a statistical framework to filter candidate disease-causing variants using high-resolution variant frequencies, reducing the number of variants under consideration and reclassifying some as pathogenic.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.