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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Among authors: carmichael j. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Hamad A, Sherlaw-Sturrock CA, Glover K, Salmon R, Low K, Nair R, Sansbury FH, Rawlins L, Carmichael J, Horton R, Wedderburn S, Edgerley K, Irving R, Callaghan M, Mercer C, McGowan R, Robert L, Titheradge H, Naik S. Hamad A, et al. Among authors: carmichael j. Eur J Med Genet. 2023 Apr;66(4):104714. doi: 10.1016/j.ejmg.2023.104714. Epub 2023 Jan 29. Eur J Med Genet. 2023. PMID: 36724812
A temperature-sensitive and interferon-silent Sendai virus vector for CRISPR-Cas9 delivery and gene editing in primary human cells.
Stevens CS, Carmichael J, Watkinson R, Kowdle S, Reis RA, Hamane K, Jang J, Park A, Pernet O, Khamaikawin W, Hong P, Thibault P, Gowlikar A, An DS, Lee B. Stevens CS, et al. Among authors: carmichael j. bioRxiv [Preprint]. 2024 May 5:2024.05.03.592383. doi: 10.1101/2024.05.03.592383. bioRxiv. 2024. PMID: 38746439 Free PMC article. Preprint.
SF3B1 mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia.
Moison C, Gracias D, Schmitt J, Girard S, Spinella JF, Fortier S, Boivin I, Mendoza-Sanchez R, Thavonekham B, MacRae T, Mayotte N, Bonneil E, Wittman M, Carmichael J, Ruel R, Thibault P, Hébert J, Marinier A, Sauvageau G. Moison C, et al. Among authors: carmichael j. Sci Adv. 2024 Mar 22;10(12):eadl4018. doi: 10.1126/sciadv.adl4018. Epub 2024 Mar 22. Sci Adv. 2024. PMID: 38517966 Free PMC article.
843 results