Items where authors include "Lynch, S.A."

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Number of items: 9.

Article

Lee, S., Ochoa, E., Badura-Stronka, M. et al. (12 more authors) (2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31 (9). pp. 1040-1047. ISSN 1018-4813

Schirwani, S., Woods, E., Koolen, D.A. et al. (8 more authors) (2022) Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A. ISSN 1552-4825

Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825

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

Cockram, A.A., Bradley, R.D., Lynch, S.A. et al. (5 more authors) (2018) Optimization of the high-throughput synthesis of multiblock copolymer nanoparticles in aqueous media: Via polymerization-induced self-assembly. Reaction Chemistry and Engineering, 3 (5). pp. 645-657.

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

Preprint

Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)

This list was generated on Sun Mar 24 06:12:10 2024 GMT.