Items where authors include "Lachlan, K."
Article
Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPUārelated syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825
Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A, 182 (4). pp. 713-720. ISSN 1552-4825
Radley, J.A. orcid.org/0000-0002-0776-0091, O'Sullivan, R.B.G., Turton, S.E. et al. (14 more authors) (2019) Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical Genetics, 95 (4). pp. 496-506. ISSN 0009-9163
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
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