Hannah C. Happ

The paper integrates genomic screening with EHR data to assess leukodystrophy penetrance and phenotypic variability, finding reduced penetrance and broad phenotypic spectra in some cases.

The paper uses AVITI sequencing to analyze homopolymer mutation rates in a CEPH/Utah pedigree, confirming lower mutation rates and no significant paternal age effect compared to other STRs.

The paper analyzes mutations in colon crypts to determine if colibactin is linked to early-onset CRC, finding that its association reflects anatomy rather than oncogenesis.

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

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

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

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.