Items where authors include "Lees, M."
Article
Blakes, A.J.M., Wai, H.A., Davies, I. et al. (16 more authors) (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1). 79. ISSN 1756-994X
Zarate, Y.A. orcid.org/0000-0001-8235-6200, Bosanko, K.A., Caffrey, A.R. et al. (45 more authors) (2019) Mutation update for the SATB2 gene. Human Mutation, 40 (8). pp. 1013-1029. ISSN 1059-7794
Burrage, L.C., Reynolds, J.J., Baratang, N.V. et al. (57 more authors) (2019) Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. American Journal of Human Genetics, 104 (3). pp. 422-438. ISSN 0002-9297
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
Beck, H., Nahse, V., Larsen, M.S.Y. et al. (7 more authors) (2010) Regulators of cyclin-dependent kinases are crucial for maintaining genome integrity in S phase. Journal of Cell Biology, 188 (5). pp. 629-638. ISSN 0021-9525
Conference or Workshop Item
Chester, M., Stupples, D. and Lees, M. (2008) A comparison of the physical and chemical composition of UK waste streams based on hypothetical compound structure. In: 13th European Biosolids and Organic Resources Conference, 10-12 November, Manchester.
Proceedings Paper
Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.