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Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
Kakar N, Mascarenhas S, Ali A, Azmatullah, Ijlal Haider SM, Badiger VA, Ghofrani MS, Kruse N, Hashmi SN, Pozojevic J, Balachandran S, Toft M, Malik S, Händler K, Fatima A, Iqbal Z, Shukla A, Spielmann M, Radhakrishnan P. Kakar N, et al. Among authors: spielmann m. Hum Genet. 2025 Jan;144(1):55-65. doi: 10.1007/s00439-024-02718-6. Epub 2024 Dec 21. Hum Genet. 2025. PMID: 39708122 Free PMC article.
Functional genomics meets human genetics.
Ludwig KU, Spielmann M. Ludwig KU, et al. Among authors: spielmann m. Med Genet. 2022 Nov 29;34(4):259-260. doi: 10.1515/medgen-2022-2160. eCollection 2022 Dec. Med Genet. 2022. PMID: 38836090 Free PMC article. No abstract available.
Isocitrate dehydrogenase 1 mutation drives leukemogenesis by PDGFRA activation due to insulator disruption in acute myeloid leukemia (AML).
Steinhäuser S, Silva P, Lenk L, Beder T, Hartmann A, Hänzelmann S, Fransecky L, Neumann M, Bastian L, Lipinski S, Richter K, Bultmann M, Hübner E, Xia S, Röllig C, Vogiatzi F, Schewe DM, Yumiceba V, Schultz K, Spielmann M, Baldus CD. Steinhäuser S, et al. Among authors: spielmann m. Leukemia. 2023 Jan;37(1):134-142. doi: 10.1038/s41375-022-01751-6. Epub 2022 Nov 21. Leukemia. 2023. PMID: 36411356 Free PMC article.
330 results