Emma C. Kivuva

The paper identifies a silencer element lost in ADLD patients that specifically targets oligodendrocyte overexpression of LMNB1, linking it to disease pathogenesis.

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

This study assesses the clinical and psychosocial outcomes of genetic diagnoses in developmental disorders using data from the DDD study, finding substantial positive impacts for most patients and families.

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.