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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: breckpot j. bioRxiv [Preprint]. 2024 Mar 18:2024.03.14.585046. doi: 10.1101/2024.03.14.585046. bioRxiv. 2024. PMID: 38562770 Free PMC article. Preprint.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia. Guo T, et al. Among authors: breckpot j. Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028. Hum Mol Genet. 2018. PMID: 29361080 Free PMC article.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: breckpot j. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 Free PMC article.
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE; International 22q11.2 Brain and Behavior Consortium. Zhao Y, et al. Among authors: breckpot j. Am J Med Genet A. 2018 Oct;176(10):2172-2181. doi: 10.1002/ajmg.a.40359. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289625 Free PMC article.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Zhao Y, et al. Among authors: breckpot j. Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. Am J Hum Genet. 2020. PMID: 31870554 Free PMC article.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Vervoort L, Demaerel W, Rengifo LY, Odrzywolski A, Vergaelen E, Hestand MS, Breckpot J, Devriendt K, Swillen A, McDonald-McGinn DM, Fiksinski AM, Zinkstok JR, Morrow BE, Heung T, Vorstman JAS, Bassett AS, Chow EWC, Shashi V; International 22q11.2 Brain; Behavior Consortium; Vermeesch JR. Vervoort L, et al. Among authors: breckpot j. Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166. Hum Mol Genet. 2019. PMID: 31884517 Free PMC article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, … See abstract for full author list ➔ Cleynen I, et al. Among authors: breckpot j. Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 3. Mol Psychiatry. 2021. PMID: 32015465 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: breckpot j. 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
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: breckpot j. Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16. Am J Hum Genet. 2015. PMID: 25892112 Free PMC article.
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Davies RW, Fiksinski AM, Breetvelt EJ, Williams NM, Hooper SR, Monfeuga T, Bassett AS, Owen MJ, Gur RE, Morrow BE, McDonald-McGinn DM, Swillen A, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, van Amelsvoort T, Arango C, Armando M, Campbell LE, Cubells JF, Eliez S, Garcia-Minaur S, Gothelf D, Kates WR, Murphy KC, Murphy CM, Murphy DG, Philip N, Repetto GM, Shashi V, Simon TJ, Suñer DH, Vicari S, Scherer SW; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vorstman JAS. Davies RW, et al. Nat Med. 2020 Dec;26(12):1912-1918. doi: 10.1038/s41591-020-1103-1. Epub 2020 Nov 9. Nat Med. 2020. PMID: 33169016 Free PMC article.
102 results