Suzanne M. Leal

The paper shows that LDSC regression can underestimate heritability when using meta-analysis or imputed variant summary statistics instead of genotyped data.

The paper introduces TransCisPredict to predict protein expression using cis- and trans-variants, improving proteome-wide association study power for type 2 diabetes.

LANTERN improves rare-variant association testing in admixed populations by incorporating local ancestry information, identifying ancestry-specific associations in a cohort of African Americans.

This study identifies shared genetic factors between asthma and lung function that vary by age-at-onset, highlighting distinct mechanisms for early-onset asthma.

The paper evaluates the power of rare variant aggregate association analysis using imputed data and finds that imputation can detect significant associations even for ultra-rare variants, though with reduced power compared to sequence data.

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 characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.