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Page 1
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Fair SR, Schwind W, Julian DL, Biel A, Guo G, Rutherford R, Ramadesikan S, Westfall J, Miller KE, Kararoudi MN, Hickey SE, Mosher TM, McBride KL, Neinast R, Fitch J, Lee DA, White P, Wilson RK, Bedrosian TA, Koboldt DC, Hester ME. Fair SR, et al. Among authors: ramadesikan s. Brain. 2023 Jan 5;146(1):387-404. doi: 10.1093/brain/awac244. Brain. 2023. PMID: 35802027 Free PMC article.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Ramadesikan S, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091508 Free PMC article.
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: ramadesikan s. 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.
15 results