Items where authors include "Haack, T.B."

Article

Rius, R. orcid.org/0000-0002-9871-3126, Blakes, A.J.M. orcid.org/0000-0002-0260-7020, Chen, Y. orcid.org/0000-0001-5593-6920 et al. (95 more authors) (2026) Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nature Genetics. pp. 1-13. ISSN 1061-4036

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. (185 more authors) (2026) De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature Genetics, 58. pp. 169-179. ISSN 1061-4036

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