Items where authors include "Banka, S."

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

Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

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

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

Oftedal, B.E., Hellesen, A., Erichsen, M.M. et al. (22 more authors) (2015) Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity , 42 (6). 1185 - 1196. ISSN 1074-7613