Items where authors include "McEntagart, M."

Article

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

Robbe, P. orcid.org/0000-0002-0691-1126, Ridout, K.E., Vavoulis, D.V. orcid.org/0000-0002-3984-1507 et al. (142 more authors) (2022) Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features. Nature Genetics, 54. pp. 1675-1689. ISSN 1061-4036

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

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

Koczkowska, M., Chen, Y., Callens, T. et al. (72 more authors) (2018) Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American Journal of Human Genetics, 102 (1). pp. 69-87. ISSN 0002-9297

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