Publications by authors named "R Jobling"

Article Synopsis
  • Genetic testing demand is rising, leading to long waitlists and pressure on traditional genetic healthcare, highlighting the need for alternative solutions like e-health tools.* -
  • This study evaluates the Genetics Navigator, a digital platform designed to enhance genetic testing support by integrating with usual care provided by clinicians in both adult and pediatric contexts.* -
  • The effectiveness will be assessed through a randomized controlled trial measuring various outcomes, including participant distress, knowledge, and satisfaction, while considering cost-effectiveness compared to standard care.*
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Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females, 13 males; median age 23.

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Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing.

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