Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …

Normally post-mitotic neurons that aberrantly re-enter the cell cycle without dividing account
for a substantial fraction of the neurons that die in Alzheimer's disease (AD). We now report …

Converging evidence indicates that processes occurring in and around neuronal dendrites
are central to the pathogenesis of Alzheimer's disease. These data support the concept of a “…

Cell type-specific transcriptional differences between brain tissues from donors with Alzheimer's
disease (AD) and unaffected controls have been well documented, but few studies have …

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies
characterized by refractory seizures and developmental impairment. Sequencing approaches …

Dementia is becoming increasingly prevalent in Latin America, contrasting with stable or
declining rates in North America and Europe. This scenario places unprecedented clinical, …

Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of
approximately 70% 1 . The genetic component of AD has been mainly assessed using genome-…

Salutary responses to adeno-associated viral (AAV) gene therapy have been reported in the
mouse model of Sandhoff disease (SD), a neurodegenerative lysosomal storage disease …

We conducted genome sequencing to search for rare variation contributing to early-onset
Alzheimer's disease (EOAD) and frontotemporal dementia (FTD). Discovery analysis was …

Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely
rare, and robust discovery of these requires both large-scale DNA sequencing and data …