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Mapping recurrent mosaic copy number variation in human neurons.
Sun C, Kathuria K, Emery SB, Kim B, Burbulis IE, Shin JH; Brain Somatic Mosaicism Network; Weinberger DR, Moran JV, Kidd JM, Mills RE, McConnell MJ. Sun C, et al. Nat Commun. 2024 May 17;15(1):4220. doi: 10.1038/s41467-024-48392-0. Nat Commun. 2024. PMID: 38760338 Free PMC article.
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU; SYNAPS Study Group; Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H. Aughey G, et al. Among authors: gleeson j. medRxiv [Preprint]. 2024 May 5:2024.05.03.24306631. doi: 10.1101/2024.05.03.24306631. medRxiv. 2024. PMID: 38746364 Free PMC article. Preprint.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: gleeson jg. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Measurement of Adverse Events in Studies of Digital Health Interventions for Psychosis: Guidance and Recommendations Based on a Literature Search and Framework Analysis of Standard Operating Procedures.
Eisner E, Richardson C, Thomas N, Rus-Calafell M, Syrett S, Firth J, Gumley A, Hardy A, Allan S, Kabir T, Ward T, Priyam A, Bucci S; iCharts network. Eisner E, et al. Schizophr Bull. 2024 Apr 29:sbae048. doi: 10.1093/schbul/sbae048. Online ahead of print. Schizophr Bull. 2024. PMID: 38683836
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, Ozcora GDK, Gumus U, Sezer O, Cetin GO, Demir F, Yilmaz A, Gurbuz G, Topcu M, Topaloglu H, Ceylan AC, Ceylaner S, Gleeson JG, Icagasioglu DF, Sonmez FM. Cavusoglu D, et al. Among authors: gleeson jg. Cerebellum. 2024 Apr 15. doi: 10.1007/s12311-024-01690-1. Online ahead of print. Cerebellum. 2024. PMID: 38622473
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Kingsmore SF, Gleeson JG. Chung C, et al. Among authors: gleeson jg. Nature. 2024 May;629(8011):384-392. doi: 10.1038/s41586-024-07292-5. Epub 2024 Apr 10. Nature. 2024. PMID: 38600385
745 results