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Page 1
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: chapman k. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: chapman k. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7 PMID: 38645094 Free PMC article. Updated. Preprint.
Limitations in Achieving Glycemic Targets From CGM Data and Persistence of Severe Hypoglycemia in Adults With Type 1 Diabetes Regardless of Insulin Delivery Method.
Laffel LM, Sherr JL, Liu J, Wolf WA, Bispham J, Chapman KS, Finan D, Titievsky L, Liu T, Hagan K, Gaglia J, Chandarana K, Pettus J, Bergenstal R. Laffel LM, et al. Among authors: chapman ks. Diabetes Care. 2024 Dec 19:dc241474. doi: 10.2337/dc24-1474. Online ahead of print. Diabetes Care. 2024. PMID: 39699995
Incidence of diabetes mellitus following hospitalisation for COVID-19 in the United Kingdom: A prospective observational study.
Tyrer F, Gharibzadeh S, Gillies C, Lawson C, Routen A, Islam N, Razieh C, Zaccardi F, Yates T, Davies MJ, Brightling CE, Chalmers JD, Docherty AB, Elneima O, Evans RA, Greening NJ, Harris VC, Harrison EM, Ho LP, Horsley A, Houchen-Wolloff L, Leavy OC, Lone NI, Marks M, McAuley HJC, Poinasamy K, Quint JK, Raman B, Richardson M, Saunders R, Sereno M, Shikotra A, Singapuri A, Wain LV, Khunti K; PHOSP‐COVID Study Collaborative Group. Tyrer F, et al. Diabetes Obes Metab. 2024 Nov 20. doi: 10.1111/dom.16071. Online ahead of print. Diabetes Obes Metab. 2024. PMID: 39563623
Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children.
Barcia Aguilar C, Amengual-Gual M, Brenton JN, Chapman KE, Clark J, Gaillard WD, Goldstein JL, Goodkin HP, Kahoud R, Lai YC, Mikati MA, Morgan LA, Payne ET, Press CA, Reece L, Sands TT, Sannagowdara K, Sheehan T, Shellhaas RA, Tasker RC, Wainwright MS, Zhang B, Loddenkemper T; pSERG. Barcia Aguilar C, et al. Among authors: chapman ke. Seizure. 2024 Dec;123:133-141. doi: 10.1016/j.seizure.2024.10.017. Epub 2024 Oct 28. Seizure. 2024. PMID: 39550933
2,025 results