Publications
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature 559, 350-355 (2018).
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).