Sian Ellard

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.

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.

The paper identifies homozygous loss of function variants in ZNF808 as a cause of pancreatic agenesis in humans, showing its role in repressing transposable elements during pancreatic development.

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.

This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

SavvyCNV calls genome-wide CNVs using off-target reads from exome and targeted sequencing, outperforming existing tools and detecting clinically relevant CNVs previously missed.

The paper shows that a mutation associated with neonatal diabetes disrupts chromatin activation of the insulin gene in human cells.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.

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.

This study uses in silico structural analysis to assess the impact of missense variants in MEN1, finding a stability threshold to predict pathogenicity.

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

The paper screens for syndromic gene mutations in individuals with hyperinsulinaemic hypoglycaemia (HH) and finds a rare pathogenic variant in KMT2D associated with Kabuki syndrome.

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.