Browsing Institute of Medical Education by Author "Kaplanis, J"
Now showing items 1-4 of 4
Issue Date | Title | Author(s) |
---|---|---|
5 July 2019 | Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data | Wright, C; Prigmore, E; Rajan, D; et al. |
14 October 2020 | Evidence for 28 genetic disorders discovered by combining healthcare and research data | Kaplanis, J; Samocha, KE; Wiel, L; et al. |
21 May 2021 | Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms | Wright, CF; Quaife, NM; Ramos-Hernández, L; et al. |
7 December 2018 | Quantifying the contribution of recessive coding variation to developmental disorders | Gallone, G; Bruntraeger, M; McRae, JF; et al. |