James Fasham

Prevalence and Penetrance of Heritable Retinoblastoma in Two Adult Population Cohorts: Implications for genomic newborn screening

This study estimates the prevalence and penetrance of heritable retinoblastoma in adult cohorts using genomic data and health records, finding lower penetrance than clinical cohorts.

Equivalent Gain-of-Function Variants in KCNK3 and KCNK9 and their Contribution to Distinct TASK K2P Channelopathies

The paper identifies equivalent gain-of-function variants in KCNK3 and KCNK9 that cause distinct channelopathies and investigates their functional effects on homomeric and heteromeric TASK channels.

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.

Investigating penetrance of severe combined immunodeficiency variants in an adult population cohort: implications for genomic newborn screening

The paper estimates penetrance of SCID variants in a population cohort, finding low penetrance and suggesting SCID remains a strong candidate for genomic newborn screening.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

Assessing performance of pathogenicity predictors using clinically-relevant variant datasets

The paper evaluates pathogenicity predictors using two clinically-relevant variant datasets, finding that newer meta-predictors outperform older tools but still have limited accuracy in clinical data.