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Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.
Greene D, De Wispelaere K, Lees J, Katrinecz A, Pascoal S, Hales E, Codina-Solà M, Valenzuela I, Tizzano EF, Atton G, Donnelly D, Foulds N, Jarvis J, McKee S, O'Donoghue M, Suri M, Vasudevan P, Stirrups K, Morgan NP, Freson K, Mumford AD, Turro E. Greene D, et al. Among authors: donnelly d. medRxiv [Preprint]. 2024 Sep 4:2024.09.03.24312863. doi: 10.1101/2024.09.03.24312863. medRxiv. 2024. PMID: 39281759 Free PMC article. Preprint.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 3:jmg-2024-110034. doi: 10.1136/jmg-2024-110034. Online ahead of print. J Med Genet. 2024. PMID: 39227160 Free article.
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.
Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, Li D, Zackai E, Vetro A, Barba C, Guerrini R, Whalen S, Keren B, Khan A, Jing D, Palomares Bralo M, Rikeros Orozco E, Hao Q, Schlott Kristiansen B, Zheng B, Donnelly D, Clowes V, Zweier M, Papik M, Siegel G, Sabatino V, Mocera M, Horn AHC, Sticht H, Rauch A. Boonsawat P, et al. Among authors: donnelly d. Am J Hum Genet. 2024 Sep 5;111(9):1994-2011. doi: 10.1016/j.ajhg.2024.07.016. Epub 2024 Aug 20. Am J Hum Genet. 2024. PMID: 39168120 Free PMC article.
Can Electrical Stimulation Prevent Recurrence of Keloid Scars? A Scoping Review.
George RE, Bay CC, Thornton SM, Knazze JT, Kane NC, Ludwig KA, Donnelly DT, Poore SO, Dingle AM. George RE, et al. Among authors: donnelly dt. Adv Wound Care (New Rochelle). 2024 Jul 26. doi: 10.1089/wound.2023.0203. Online ahead of print. Adv Wound Care (New Rochelle). 2024. PMID: 38888004
Livestreaming Microsurgery Education: An Avenue to Expand Global Plastic Surgery.
Eftekari SC, Zeng W, Shaffrey EC, Reuter Munoz KD, Donnelly DT, Dingle AM, Poore SO. Eftekari SC, et al. Among authors: donnelly dt. Plast Reconstr Surg Glob Open. 2024 May 13;12(5):e5797. doi: 10.1097/GOX.0000000000005797. eCollection 2024 May. Plast Reconstr Surg Glob Open. 2024. PMID: 38741601 Free PMC article.
419 results