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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. Vong KI, et al. Among authors: emanuel bs. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM. Ron HA, et al. Among authors: emanuel bs. Genes (Basel). 2022 Dec 24;14(1):62. doi: 10.3390/genes14010062. Genes (Basel). 2022. PMID: 36672801 Free PMC article.
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome.
Frusone V, Maurer K, Emanuel BS, McDonald-McGinn D, Sullivan KE. Frusone V, et al. Among authors: emanuel bs. J Clin Immunol. 2024 Mar 15;44(3):82. doi: 10.1007/s10875-024-01689-7. J Clin Immunol. 2024. PMID: 38488991 No abstract available.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Lin JR, Zhao Y, Jabalameli MR, Nguyen N, Mitra J; International 22q11.DS Brain and Behavior Consortium; Swillen A, Vorstman JAS, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Owen MJ, Williams NM, Bassett AS, McDonald-McGinn DM, Gur RE, Bearden CE, Morrow BE, Lachman HM, Zhang ZD. Lin JR, et al. Among authors: emanuel bs. Mol Psychiatry. 2023 May;28(5):2071-2080. doi: 10.1038/s41380-023-02009-y. Epub 2023 Mar 3. Mol Psychiatry. 2023. PMID: 36869225
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Freud LR, et al. Among authors: emanuel bs. Am J Obstet Gynecol. 2024 Mar;230(3):368.e1-368.e12. doi: 10.1016/j.ajog.2023.09.005. Epub 2023 Sep 16. Am J Obstet Gynecol. 2024. PMID: 37717890
Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis.
Goldenberg PC, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur RC, Gur RE. Goldenberg PC, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):87-93. doi: 10.1002/ajmg.b.32005. Epub 2011 Dec 13. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22170773 Free PMC article.
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.
Gur RE, McDonald-McGinn DM, Moore TM, Gallagher RS, McClellan E, White L, Ruparel K, Hillman N, Crowley TB, McGinn DE, Zackai E, Emanuel BS, Calkins ME, Roalf DR, Gur RC. Gur RE, et al. Among authors: emanuel bs. Psychol Med. 2023 Mar 29;53(14):1-10. doi: 10.1017/S0033291723000259. Online ahead of print. Psychol Med. 2023. PMID: 36987693 Free PMC article.
354 results