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Year Number of Results
2003 2
2004 2
2005 4
2006 1
2007 3
2008 2
2009 3
2010 2
2011 3
2012 2
2013 1
2014 2
2015 7
2016 8
2017 7
2018 8
2019 7
2020 8
2021 6
2022 8
2023 16
2024 3

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90 results

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Page 1
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: swillen a. bioRxiv [Preprint]. 2024 Mar 18:2024.03.14.585046. doi: 10.1101/2024.03.14.585046. bioRxiv. 2024. PMID: 38562770 Free PMC article. Preprint.
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.
Gur R, Bearden C, Jacquemont S, Jizi K, Amelsvoort van T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher R, Swillen A, McClellan E, White L, Crowley T, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner S, Patel N, Palad K, Hong O, Guevara J, Martin CO, Bélanger AM, Scherer S, Bassett A, McDonald-McGinn D, Gur R. Gur R, et al. Among authors: swillen a. Res Sq [Preprint]. 2023 Dec 29:rs.3.rs-3393845. doi: 10.21203/rs.3.rs-3393845/v1. Res Sq. 2023. PMID: 38234766 Free PMC article. Preprint.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: swillen a. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
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: swillen a. 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: swillen a. 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.
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.
Verbesselt J, Solot CB, Van Den Heuvel E, Crowley TB, Giunta V, Breckpot J, McDonald-McGinn DM, Zink I, Swillen A. Verbesselt J, et al. Among authors: swillen a. Genes (Basel). 2023 Mar 9;14(3):679. doi: 10.3390/genes14030679. Genes (Basel). 2023. PMID: 36980951 Free PMC article.
90 results