Fabiola Quintero‐Rivera

This study evaluates the impact of geneticist involvement on genetic testing uptake, diagnostic yield, and patient education in perinatal demise cases.

This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.

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 evaluates the impact of genetic testing on an inpatient child and adolescent psychiatry service, finding increased testing rates and higher representation of underrepresented minorities.