Items where authors include "Keren, B."

Article

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

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., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A, 182 (4). pp. 713-720. ISSN 1552-4825

Ito, Y., Carss, K.J., Duarte, S.T. et al. (18 more authors) (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. The American Journal of Human Genetics, 103 (1). pp. 144-153. ISSN 0002-9297

Proceedings Paper

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.