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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Ma A, Newing TP, O'Shea R, Gokoolparsadh A, Murdoch E, Hayward J, Shannon G, Kevin L, Bennetts B, Ho G, Smith J, Shah M, Jones KJ, Josephi-Taylor S, Sandaradura SA, Adès L, Jamieson R, Rankin NM. Ma A, et al. Among authors: jones kj. J Paediatr Child Health. 2024 Apr 11. doi: 10.1111/jpc.16547. Online ahead of print. J Paediatr Child Health. 2024. PMID: 38605555
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: jones kj. Ann Clin Transl Neurol. 2024 Mar 27. doi: 10.1002/acn3.52041. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free article.
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.
Llansó L, Moore U, Bolano-Diaz C, James M, Blamire AM, Carlier PG, Rufibach L, Gordish-Dressman H, Boyle G, Hilsden H, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell JR, Straub V, Díaz-Manera J. Llansó L, et al. Among authors: jones kj. Neuromuscul Disord. 2023 Apr;33(4):349-357. doi: 10.1016/j.nmd.2023.02.007. Epub 2023 Mar 2. Neuromuscul Disord. 2023. PMID: 36972667 Free article. Review.
355 results