Publications
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J Med Genet 53, 172-9 (2016).
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet 53, 608-15 (2016).