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Page 1
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. 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. 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.
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.
Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O'Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE; Genes to Mental Health Network. Jacquemont S, et al. Am J Psychiatry. 2022 Mar;179(3):189-203. doi: 10.1176/appi.ajp.2021.21040432. Am J Psychiatry. 2022. PMID: 35236119 Free PMC article. Review.
Genome maps across 26 human populations reveal population-specific patterns of structural variation.
Levy-Sakin M, Pastor S, Mostovoy Y, Li L, Leung AKY, McCaffrey J, Young E, Lam ET, Hastie AR, Wong KHY, Chung CYL, Ma W, Sibert J, Rajagopalan R, Jin N, Chow EYC, Chu C, Poon A, Lin C, Naguib A, Wang WP, Cao H, Chan TF, Yip KY, Xiao M, Kwok PY. Levy-Sakin M, et al. Nat Commun. 2019 Mar 4;10(1):1025. doi: 10.1038/s41467-019-08992-7. Nat Commun. 2019. PMID: 30833565 Free PMC article.
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Pastor S, Tran O, Jin A, Carrado D, Silva BA, Uppuluri L, Abid HZ, Young E, Crowley TB, Bailey AG, McGinn DE, McDonald-McGinn DM, Zackai EH, Xie M, Taylor D, Morrow BE, Xiao M, Emanuel BS. Pastor S, et al. Sci Rep. 2020 Jul 22;10(1):12235. doi: 10.1038/s41598-020-69134-4. Sci Rep. 2020. PMID: 32699385 Free PMC article.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. Demaerel W, et al. Genome Res. 2019 Sep;29(9):1389-1401. doi: 10.1101/gr.248682.119. Genome Res. 2019. PMID: 31481461 Free PMC article.
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Campbell IM, Crowley TB, Jobaliya C, Bailey A, McGinn DE, Gaiser K, Bassett A, Gur RE, Morrow B, Emanuel BS, Franco AT, French D, Zackai EH, McDonald-McGinn DM, Lambert MP. Campbell IM, et al. Clin Genet. 2023 Jan;103(1):109-113. doi: 10.1111/cge.14227. Epub 2022 Sep 16. Clin Genet. 2023. PMID: 36075864 Free PMC article.
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.
Ching CRK, Gutman BA, Sun D, Villalon Reina J, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, van Amelsvoort T, Antshel KM, Fremont W, Kates WR, Campbell LE, McCabe KL, Craig MC, Daly E, Gudbrandsen M, Murphy CM, Murphy DG, Murphy KC, Fiksinski A, Koops S, Vorstman J, Crowley TB, Emanuel BS, Gur RE, McDonald-McGinn DM, Roalf DR, Ruparel K, Schmitt JE, Zackai EH, Durdle CA, Goodrich-Hunsaker NJ, Simon TJ, Bassett AS, Butcher NJ, Chow EWC, Vila-Rodriguez F, Cunningham A, Doherty J, Linden DE, Moss H, Owen MJ, van den Bree M, Crossley NA, Repetto GM, Thompson PM, Bearden CE. Ching CRK, et al. Am J Psychiatry. 2020 Jul 1;177(7):589-600. doi: 10.1176/appi.ajp.2019.19060583. Epub 2020 Feb 12. Am J Psychiatry. 2020. PMID: 32046535 Free PMC article.