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Page 1
A normative chart for cognitive development in a genetically selected population.
Fiksinski AM, Bearden CE, Bassett AS, Kahn RS, Zinkstok JR, Hooper SR, Tempelaar W, McDonald-McGinn D, Swillen A, Emanuel B, Morrow B, Gur R, Chow E, van den Bree M, Vermeesch J, Warren S, Owen M, van Amelsvoort T, Eliez S, Gothelf D, Arango C, Kates W, Simon T, Murphy K, Repetto G, Suner DH, Vicari S, Cubells J, Armando M, Philip N, Campbell L, Garcia-Minaur S, Schneider M, Shashi V; 22q11DS International Consortium on Brain and Behavior; Vorstman J, Breetvelt EJ. Fiksinski AM, et al. Neuropsychopharmacology. 2022 Jun;47(7):1379-1386. doi: 10.1038/s41386-021-00988-6. Epub 2021 Mar 29. Neuropsychopharmacology. 2022. PMID: 33782512 Free PMC article.
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.
Fiksinski AM, Schneider M, Murphy CM, Armando M, Vicari S, Canyelles JM, Gothelf D, Eliez S, Breetvelt EJ, Arango C, Vorstman JAS. Fiksinski AM, et al. Am J Med Genet A. 2018 Oct;176(10):2182-2191. doi: 10.1002/ajmg.a.40387. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194907 Free PMC article. Review.
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. 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.
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: fiksinski a. 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.
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. Among authors: fiksinski am. 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.
Low prevalence of substance use in people with 22q11.2 deletion syndrome.
Vingerhoets C, van Oudenaren MJF, Bloemen OJN, Boot E, van Duin EDA, Evers LJM, Fiksinski AM, Breetvelt EJ, Palmer LD, Vergaelen E, Vogels A, Meijer C, Booij J; Genetic Risk and Outcome of Psychosis (GROUP) investigators; de Haan L, Swillen A, Vorstman JAS, Bassett AS, van Amelsvoort TAMJ. Vingerhoets C, et al. Among authors: fiksinski am. Br J Psychiatry. 2019 Nov;215(5):661-667. doi: 10.1192/bjp.2018.258. Br J Psychiatry. 2019. PMID: 30604657
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: fiksinski am. Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166. Hum Mol Genet. 2019. PMID: 31884517 Free PMC article.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011 PMID: 28965848 Free PMC article. Retracted.
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.
Sun D, Ching CRK, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, Villalon-Reina JE, Qu X, Jonas RK, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, Fremont W, Campbell LE, McCabe KL, Daly E, Gudbrandsen M, Murphy CM, Murphy D, Craig M, Vorstman J, Fiksinski A, Koops S, Ruparel K, Roalf DR, Gur RE, Schmitt JE, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Bassett AS, Chow EWC, Butcher NJ, Vila-Rodriguez F, Doherty J, Cunningham A, van den Bree MBM, Linden DEJ, Moss H, Owen MJ, Murphy KC, McDonald-McGinn DM, Emanuel B, van Erp TGM, Turner JA, Thompson PM, Bearden CE. Sun D, et al. Mol Psychiatry. 2020 Aug;25(8):1822-1834. doi: 10.1038/s41380-018-0078-5. Epub 2018 Jun 13. Mol Psychiatry. 2020. PMID: 29895892 Free PMC article.
30 results