Sarah Lindsay

The paper shows inherited protein-truncating variants contribute to developmental disorders through partial gene expression loss, affecting ~20% of children with such variants.

The paper imputes fluid intelligence scores in a large cohort, reducing ascertainment bias and increasing power to detect genetic associations with common and rare variants.

This paper uses somatic mutation data to improve the classification of germline variants in developmental disorders by identifying genes where somatic and germline mechanisms are concordant.

The paper examines how prematurity interacts with genetic variation in rare developmental disorders, finding independent and additive effects on phenotypic severity and identifying genetic contributions to preterm birth risk.

The paper examines how common and rare genetic variants affect cognitive performance across childhood and adolescence, finding age-related changes in their effects and differences in their impact across the phenotype distribution.

The paper investigates the role of rare inherited coding variants in developmental disorders by analyzing family and case/control data, finding significant burdens of damaging variants and estimating their population attributable risk.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

InDelible detects cryptic structural variants in exome sequencing data, improving diagnostic yield for developmental disorders by identifying variants missed by standard methods.

The paper compares germline mutation rates and spectra between mice and humans using whole genome sequencing of multi-sibling pedigrees, finding significant differences including a reduced mutation rate in human spermatogonial stem cells.