Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Swati Naik, Kaitlin E. Samocha et al.|Nature|2020Cited by 672
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected IndividualsClaire Forde, Emma R. Woodward, Abhijit Dixit et al.|European Urology Oncology|2019Cited by 92
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