Michelle D. Amaral

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

Contributions of rare and common variation to early-onset and atypical dementia risk

The paper analyzes genomic data from early-onset and atypical dementia patients to show that both rare and common genetic variations contribute to dementia risk.

Genome sequencing as a first-line diagnostic test for hospitalized newborns

This study evaluates genome sequencing in hospitalized newborns, finding it more effective than standard care in identifying genetic diagnoses, especially in those with specific phenotypes.

Non-Coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

The paper identifies rare variants in TET2 associated with early-onset Alzheimer's disease and frontotemporal dementia, highlighting both coding and non-coding variants as risk factors.

Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

The paper reports secondary findings in parents of children with developmental delay through genomic sequencing, identifying clinically relevant variants in 9% of participants.

Genomic diagnosis for children with intellectual disability and/or developmental delay

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.