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Page 1
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, Koch AEA, Meltzer HS, Le J, Au KS, Northrup H, Bot GM, Capra V, Finnell RH, Kibar Z, Lupo PJ, Machado HR, Araújo C, Magana T, Marwan AI, Melikishvili G, Mutchinick OM, Stevenson RE, Yurrita A, Zaki MS, Mumtaz S, Medina-Bereciartu JR, Kolvenbach CM, Shril S, Hildebrandt F, Noureldeen MM, Salem AM, Takahashi Y, Salimi-Dafsari H, Phillips HW, Hanak B, Kara B, Güneş AS, Gonda DD, Kirmani S, Tkemaladze T, 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
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: gleeson jg. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
A Novel Blended Transdiagnostic Intervention (eOrygen) for Youth Psychosis and Borderline Personality Disorder: Uncontrolled Single-Group Pilot Study.
O'Sullivan S, McEnery C, Cagliarini D, Hinton JDX, Valentine L, Nicholas J, Chen NA, Castagnini E, Lester J, Kanellopoulos E, D'Alfonso S, Gleeson JF, Alvarez-Jimenez M. O'Sullivan S, et al. Among authors: gleeson jf. JMIR Ment Health. 2024 Apr 1;11:e49217. doi: 10.2196/49217. JMIR Ment Health. 2024. PMID: 38557432 Free PMC article.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Among authors: gleeson jg. medRxiv [Preprint]. 2024 Mar 5:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.
742 results