Items where authors include "Woods, E."

Article

Woods, E. orcid.org/0000-0003-2349-2688, Holmes, N., Albaba, S. et al. (2 more authors) (2024) ASXL3‐related disorder: molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical Genetics. ISSN 0009-9163

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

Woods, E., Marson, I., Coci, E. et al. (14 more authors) (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A, 188 (11). pp. 3331-3342. ISSN 1552-4825

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

Woods, E., Yates, M., Kanani, F. et al. (1 more author) (2022) Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. Clinical Dysmorphology, 31 (3). pp. 132-135. ISSN 0962-8827

Woods, E., Spiller, M. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. American Journal of Medical Genetics Part A, 188 (3). pp. 931-940. ISSN 1552-4825

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)