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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC. Showpnil IA, et al. Among authors: wilson rk. NPJ Genom Med. 2024 Dec 18;9(1):66. doi: 10.1038/s41525-024-00454-4. NPJ Genom Med. 2024. PMID: 39695126 Free PMC article.
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.
Ramadesikan S, Showpnil IA, Marhabaie M, Daley A, Varga EA, Gurusamy U, Pastore MT, Sites ER, Manickam M, Bartholomew DW, Hunter JM, White P, Wilson RK, Stottmann RW, Koboldt DC. Ramadesikan S, et al. Among authors: wilson rk. HGG Adv. 2025 Jan 9;6(1):100379. doi: 10.1016/j.xhgg.2024.100379. Epub 2024 Nov 4. HGG Adv. 2025. PMID: 39497417 Free PMC article.
616 results