Items where authors include "Parker, M.J."

Article

Richardson, R., Baralle, D., Bennett, C. et al. (19 more authors) (2022) Further delineation of phenotypic spectrum of SCN2A-related disorder. American Journal of Medical Genetics Part A, 188 (3). pp. 867-877. ISSN 1552-4825

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

Yates, T.M., Drucker, M., Barnicoat, A. et al. (19 more authors) (2020) ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41 (5). pp. 1042-1050. ISSN 1059-7794

Kanani, F., Mordekar, S., Parker, M.J. et al. (2 more authors) (2019) Dual diagnosis causing severe phenotype in a patient with Angelman syndrome. Clinical Dysmorphology, 28 (3). pp. 158-161. ISSN 0962-8827

Kanani, F. orcid.org/0000-0003-4388-0290, Parker, M.J., Burren, C.P. et al. (2 more authors) (2019) Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A , 179 (1). pp. 139-140. 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

Faundes, V., Newman, W.G., Bernardini, L. et al. (20 more authors) (2018) Histone lysine methylases and demethylases in the landscape of human developmental disorders. American Journal of Human Genetics, 102 (1). pp. 175-187. ISSN 0002-9297

Hart, A.R., Sharma, R., Atherton, M. et al. (8 more authors) (2017) Aetiological investigations in early developmental impairment: are they worth it? Archives of Disease in Childhood, 102 (11). pp. 1004-1013. ISSN 0003-9888

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

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hurst, J., Brown, S. et al. (16 more authors) (2016) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94. pp. 65-74. ISSN 8756-3282

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)