Items where authors include "Sheridan, EG"

Article

Elpidorou, M, Poulter, JA orcid.org/0000-0003-2048-5693, Szymanska, K et al. (8 more authors) (2022) Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 30 (7). pp. 860-864. ISSN 1018-4813

Bonnefoy, S, Watson, CM, Kernohan, KD et al. (22 more authors) (2018) Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. American Journal of Human Genetics, 103 (5). pp. 727-739. ISSN 0002-9297

Mirzaa, GM, Parry, DA, Fry, AE et al. (31 more authors) (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46 (5). pp. 510-515. ISSN 1061-4036

Conference or Workshop Item

Sheridan, EG orcid.org/0000-0002-7237-6280, Bonnefoy, S, Watson, CM et al. (17 more authors) (2019) Biallelic Mutations in LRRC56, encoding a protein associated with intraflagellar transport, causes defects in mucociliary clearance and laterality. In: 51st European Society of Human Genetics Conference, 16-19 Jun 2018, Milan, Italy.