Elizabeth Berry‐Kravis

The paper analyzes genotypic and phenotypic data from 173 patients with nano-rare mutations to explore genotype-phenotype relationships and the potential for antisense oligonucleotide therapy.

The paper uses latent class analysis to identify distinct behavioral subtypes in children with fragile X syndrome, revealing clinically meaningful groups with unique cognitive and behavioral profiles.

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.