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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.
Weisz-Hubshman M, Burrage LC, Jangam SV, Rosenfeld JA, von Hardenberg S, Bergmann A, Richter MF, Rydzanicz M, Ploski R, Stembalska A, Chung WK, Hernan RR, Lim FY, Brunet T, Syrbe S, Keren B, Heide S, Murdock DR, Dai H, Xia F, Ketkar S, Dawson B, Narayanan V, Graves HK; Undiagnosed Diseases Network; Wangler MF, Bacino C, Lee B. Weisz-Hubshman M, et al. Genet Med. 2025 Apr;27(4):101369. doi: 10.1016/j.gim.2025.101369. Epub 2025 Jan 28. Genet Med. 2025. PMID: 39891528
The Clinical Spectrum of Mosaic Genetic Disease.
Geiger H, Furuta Y, van Wyk S, Phillips JA 3rd, Tinker RJ. Geiger H, et al. Among authors: phillips ja 3rd. Genes (Basel). 2024 Sep 24;15(10):1240. doi: 10.3390/genes15101240. Genes (Basel). 2024. PMID: 39457364 Free PMC article. Review.
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Among authors: phillips ja 3rd. Mol Genet Metab Rep. 2024 Oct 5;41:101145. doi: 10.1016/j.ymgmr.2024.101145. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39435313 Free PMC article.
340 results