Browsing Institute of Medical Education by Author "Gallone, G"
Now showing items 1-6 of 6
Issue Date | Title | Author(s) |
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26 September 2018 | Common genetic variants contribute to risk of rare severe neurodevelopmental disorders | Niemi, MEK; Martin, HC; Rice, DL; 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. |
11 January 2018 | Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. | Wright, CF; McRae, JF; Clayton, S; 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. |
21 March 2018 | De novo mutations in regulatory elements in neurodevelopmental disorders | Short, PJ; McRae, JF; Gallone, G; et al. |
7 December 2018 | Quantifying the contribution of recessive coding variation to developmental disorders | Gallone, G; Bruntraeger, M; McRae, JF; et al. |