Items where authors include "Ellard, S."
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Ellingford, J.M., Ahn, J.W., Bagnall, R.D. et al. (24 more authors) (2022) Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14 (1). 73. ISSN 1756-994X
Ashraf, T., Vaina, C., Giri, D. et al. (7 more authors) (2020) Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome. American Journal of Medical Genetics Part A, 182 (10). pp. 2403-2408. ISSN 1552-4825
Wai, H.A., Lord, J., Lyon, M. et al. (11 more authors) (2020) Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in Medicine, 22 (6). pp. 1005-1014. ISSN 1098-3600
Rautengarten, C., Quarrell, O.W., Stals, K. et al. (9 more authors) (2019) A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Human Molecular Genetics, 28 (21). pp. 3543-3551. ISSN 0964-6906
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
Shields, B.M., McDonald, T.J., Ellard, S. et al. (3 more authors) (2012) The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia, 55 (5). pp. 1265-1272. ISSN 0012-186X
Gloyn, A.L., Pearson, E.R., Antcliff, J.F. et al. (22 more authors) (2004) Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes. New England Journal of Medicine, 350 (18). pp. 1838-1849. ISSN 1533-4406
Proceedings Paper
Quarrell, O.W., Rautengarten, C., Stals, K. et al. (9 more authors) (2019) Report of a novel variant causing a schneckenbecken-like dysplasia. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1298-1299.