Items where authors include "Prigmore, E."

Article

Chen, R. orcid.org/0000-0003-2887-2751, Lukianova, E. orcid.org/0000-0003-3566-5873, van der Loeff, I.S. orcid.org/0000-0003-1196-6196 et al. (34 more authors) (2024) NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome. Science Immunology, 9 (95). eade5705. ISSN 2470-9468

Martin, H.C., Jones, W.D., McIntyre, R. et al. (37 more authors) (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362 (6419). pp. 1161-1164. ISSN 0036-8075

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836