Preprints

In vivo proximity ligation reveals endogenous candidate interactors of neurexin’s intracellular domain.

Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.

High body mass polygenic risk in mothers enhances de novo functional mutations in epigenetic and microtubule gene pathways in their offspring with autism spectrum disorder.

GATK-gCNV: A rare copy number variant discovery algorithm and its application to exome sequencing in the UK Biobank.

Rapid specification of human pluripotent stem cells to functional astrocytes.

Isoform-level transcriptome-wide association uncovers extensive novel genetic risk mechanisms for neuropsychiatric disorders in the human brain.

Polygenic architecture of rare coding variation across 400,000 exomes.

Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes.

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.

Rare CNVs and phenome-wide profiling: A tale of brain-structural divergence and phenotypical convergence.