Heather C. Mefford

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

The paper constructs TRCompDB, a database of 4.4 million tandem repeat loci across 832 human genomes, revealing mutation rates and dynamics influenced by recombination and duplication context.

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

The paper develops a patient-derived cortical organoid model of UBA5-associated encephalopathy, identifies neurodevelopmental defects, and highlights potential therapeutic strategies.

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

STRling detects short tandem repeat expansions at known and novel loci using k-mer counting, achieving high sensitivity and base pair accuracy.

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

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

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

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.

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.