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Closing the gap: Solving complex medically relevant genes at scale.
Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani SN, Doddapaneni H, Meng Q, Han T, Lambert C, Zhang S, Baybayan P, Henno G, Shen H, Hu J, Han Y, Riegler C, Metcalf G, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ. Mahmoud M, et al. Among authors: zhang s. medRxiv [Preprint]. 2024 Mar 18:2024.03.14.24304179. doi: 10.1101/2024.03.14.24304179. medRxiv. 2024. PMID: 38562723 Free PMC article. Preprint.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ; Care4Rare Canada Consortium; Marshall CR, Kernohan KD, Boycott KM. Del Gobbo GF, et al. Among authors: zhang s. Am J Med Genet A. 2024 May;194(5):e63522. doi: 10.1002/ajmg.a.63522. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38131126
Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies.
Yang Q, Zhang Q, Zhou X, Feng J, Zhang S, Lin L, Yi S, Qin Z, Luo J. Yang Q, et al. Among authors: zhang s. Front Genet. 2024 Dec 10;15:1503048. doi: 10.3389/fgene.2024.1503048. eCollection 2024. Front Genet. 2024. PMID: 39720179 Free PMC article.
Overexpression of lncRNA EPB41L4A-AS1 Induces Metabolic Reprogramming in Trophoblast Cells and Placenta Tissue of Miscarriage.
Zhu Y, Liu Q, Liao M, Diao L, Wu T, Liao W, Wang Z, Li B, Zhang S, Wang S, Xie W, Jiang Y, Xu N, Zeng Y, Yang BB, Zhang Y. Zhu Y, et al. Among authors: zhang s. Mol Ther Nucleic Acids. 2024 Dec 6;36(1):102411. doi: 10.1016/j.omtn.2024.102411. eCollection 2025 Mar 11. Mol Ther Nucleic Acids. 2024. PMID: 39719982 Free PMC article. No abstract available.
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