Amy B. Wilfert

The paper investigates family-specific contributions to de novo mutations and finds that stochasticity explains most of the variation.

The paper presents a gapless, telomere-to-telomere assembly of the human X chromosome using ultra-long-read nanopore sequencing and complementary technologies.

The paper identifies ultra-rare inherited mutations that are younger and preferentially transmitted to autism probands, revealing novel candidate genes and functional networks.

The paper maps chromatin accessibility in developing human brain and organoids using scATAC-seq, revealing cell type-specific regulatory elements and their role in neurodevelopment.