Cincinnati Children's Hospital Medical Center

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants (2024) Qiao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas JM, Buchmiller T, et al. Journal article Small-molecule-induced epigenetic rejuvenation promotes SREBP condensation and overcomes barriers to CNS myelin regeneration (2024) Liu X, Xin DE, Zhong X, Zhao C, Li Z, Zhang L, Dourson AJ, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Clinical practice guidelines for the care of girls and women with Turner syndrome Proceedings from the 2023 Aarhus International Turner Syndrome Meeting (2024) Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, et al. Journal article The myelination-associated G protein-coupled receptor 37 is regulated by Zfp488, Nkx2.2, and Sox10 during oligodendrocyte differentiation (2024) Schmidt AL, Kremp M, Aratake T, Cui S, Lin Y, Zhong X, Lu QR, et al. Journal article De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation (2024) Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, et al. Journal article ETOPOSIDE FOR PRIMARY HLH - BETTER THAN ITS REPUTATION (2023) Lehmberg K, Ledig S, Wustrau K, Kontny U, Westphal S, Hundsdoerfer P, Jorch N, et al. Conference contribution Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy (2023) Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, et al. Journal article