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Page 1
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: lord j. 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.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Among authors: lord j. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Umbrella Review and Meta-Analysis: The Efficacy of Nonpharmacological Interventions for Sleep Disturbances in Children and Adolescents.
Hornsey SJ, Gosling CJ, Jurek L, Nourredine M, Telesia L, Solmi M, Butt I, Greenwell K, Muller I, Hill CM, Cortese S; DISCA Team. Hornsey SJ, et al. J Am Acad Child Adolesc Psychiatry. 2024 Nov 26:S0890-8567(24)02021-5. doi: 10.1016/j.jaac.2024.10.015. Online ahead of print. J Am Acad Child Adolesc Psychiatry. 2024. PMID: 39608635 Free article.
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.
Hartill V, Kabir M, Best S, Shaikh Qureshi WM, Baross SL, Lord J, Yu J, Sasaki E, Needham H, Shears D, Roche M, Wall E, Cooper N, Ryan G, Eason J, Johnson R, Keavney B, Hentges KE, Johnson CA. Hartill V, et al. Among authors: lord j. Eur J Hum Genet. 2024 Nov 26. doi: 10.1038/s41431-024-01744-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39587356 Free article.
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
Optimising Anti-D Use: Revisiting Guidelines for First Trimester Abortions.
Whitehouse KC, Lohr PA, Reynolds-Wright J, Lord J, Robson S, Masters T, Neubauer Y, Kingsley L, Cameron S. Whitehouse KC, et al. Among authors: lord j. BJOG. 2024 Nov 7. doi: 10.1111/1471-0528.17996. Online ahead of print. BJOG. 2024. PMID: 39508128 No abstract available.
1,623 results