Items where authors include "Wakeling, E."

Article

Sabanathan, S., Gulhane, D., Mankad, K. et al. (10 more authors) (2023) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders, 33 (1). pp. 50-57. ISSN 0960-8966

McNeill, A., Aurora, P., Rajput, K. et al. (4 more authors) (2022) Dominant and recessive SLC12A2-syndrome. American Journal of Medical Genetics Part A, 188 (3). pp. 996-999. ISSN 1552-4825

Schirwani, S. orcid.org/0000-0001-9602-4063, Wakeling, E., Smith, K. et al. (2 more authors) (2018) Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. American Journal of Medical Genetics Part A, 176 (5). pp. 1238-1244. ISSN 1552-4825

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