Items where authors include "Pfundt, R."
Article
Harris, E.L., Roy, V., Montagne, M. et al. (15 more authors) (2024) A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes. American Journal of Human Genetics, 111 (1). pp. 119-132. ISSN 0002-9297
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
Kaplanis, J., Samocha, K.E., Wiel, L. et al. (30 more authors) (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586 (7831). pp. 757-762. ISSN 0028-0836
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