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Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Eom TY, et al. Among authors: emanuel bs. Nat Commun. 2024 Dec 5;15(1):10510. doi: 10.1038/s41467-024-54837-3. Nat Commun. 2024. PMID: 39638997 Free PMC article.
Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome.
Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn D, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. Among authors: emanuel bs. Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124. Online ahead of print. Genome Res. 2024. PMID: 39537358
22q11.2 Deletion Syndrome.
McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: emanuel bs. 1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301696 Free Books & Documents. Review.
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
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.
Vervoort L, Dierckxsens N, Santos MS, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn DM, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. Among authors: emanuel bs. bioRxiv [Preprint]. 2024 Mar 18:2024.03.14.585046. doi: 10.1101/2024.03.14.585046. bioRxiv. 2024. Update in: Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124 PMID: 38562770 Free PMC article. Updated. Preprint.
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.
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.
White LK, Hillman N, Ruparel K, Moore TM, Gallagher RS, McClellan EJ, Roalf DR, Scott JC, Calkins ME, McGinn DE, Giunta V, Tran O, Crowley TB, Zackai EH, Emanuel BS, McDonald-McGinn DM, Gur RE, Gur RC. White LK, et al. Among authors: emanuel bs. J Intellect Disabil Res. 2024 Apr;68(4):369-376. doi: 10.1111/jir.13115. Epub 2024 Jan 16. J Intellect Disabil Res. 2024. PMID: 38229473
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
Ge R, Ching CRK, Bassett AS, Kushan L, Antshel KM, van Amelsvoort T, Bakker G, Butcher NJ, Campbell LE, Chow EWC, Craig M, Crossley NA, Cunningham A, Daly E, Doherty JL, Durdle CA, Emanuel BS, Fiksinski A, Forsyth JK, Fremont W, Goodrich-Hunsaker NJ, Gudbrandsen M, Gur RE, Jalbrzikowski M, Kates WR, Lin A, Linden DEJ, McCabe KL, McDonald-McGinn D, Moss H, Murphy DG, Murphy KC, Owen MJ, Villalon-Reina JE, Repetto GM, Roalf DR, Ruparel K, Schmitt JE, Schuite-Koops S, Angkustsiri K, Sun D, Vajdi A, van den Bree M, Vorstman J, Thompson PM, Vila-Rodriguez F, Bearden CE. Ge R, et al. Among authors: emanuel bs. Hum Brain Mapp. 2024 Jan;45(1):e26553. doi: 10.1002/hbm.26553. Hum Brain Mapp. 2024. PMID: 38224541 Free PMC article.
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
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: emanuel bs. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
356 results