Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Swati Naik, Kaitlin E. Samocha et al.|Nature|2020Cited by 672
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Esther Kinning, Frances Flinter et al.|Genome Research|2018Cited by 102
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R. Jeffries, Emma L. Baple, Reza Maroofian et al.|Genome Research|2019Cited by 68
The contribution of X-linked coding variation to severe developmental disordersHilary C. Martin, Alison Hills, Eugene J. Gardner et al.|Nature Communications|2021Cited by 65
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working GroupJette J. Bakhuizen, Stephanie E. Smetsers, Helen Hanson et al.|Familial Cancer|2021Cited by 53