1.
Heterozygous de novo variants in the TBR1 cause a rare form of autism called TBR1 Syndrome, which involces intellectual disability, behavioral disturbances, and speech an [...]
2024 | Abstract |
2.
Individuals who inherit a pathogenic mutation in SDHA have an increased risk of cancer. However, there is often insufficient evidence to properly assess pathogenicity, an [...]
2023-12-14 | Dissertation |
3.
This study examined lifetime medical and psychiatric morbidity reported by caregivers of 2,917 autistic adults participating in the US research cohort SPARK. Participants [...]
2020 | Abstract |