Anne Michele Slavotinek

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.

This study reviews the cost and clinical utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in pediatric genetic disease diagnosis, finding limited evidence of WGS superiority over WES in changing clinical management.

This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.