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2020 2
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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. 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.
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. Hum Brain Mapp. 2024 Jan;45(1):e26553. doi: 10.1002/hbm.26553. Hum Brain Mapp. 2024. PMID: 38224541 Free PMC article.
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.
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.
Chawner SJRA, Doherty JL, Anney RJL, Antshel KM, Bearden CE, Bernier R, Chung WK, Clements CC, Curran SR, Cuturilo G, Fiksinski AM, Gallagher L, Goin-Kochel RP, Gur RE, Hanson E, Jacquemont S, Kates WR, Kushan L, Maillard AM, McDonald-McGinn DM, Mihaljevic M, Miller JS, Moss H, Pejovic-Milovancevic M, Schultz RT, Green-Snyder L, Vorstman JA, Wenger TL; IMAGINE-ID Consortium; Hall J, Owen MJ, van den Bree MBM. Chawner SJRA, et al. Am J Psychiatry. 2021 Jan 1;178(1):77-86. doi: 10.1176/appi.ajp.2020.20010015. Am J Psychiatry. 2021. PMID: 33384013 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.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. Schaaf CP, et al. Nat Rev Genet. 2020 Jun;21(6):367-376. doi: 10.1038/s41576-020-0231-2. Epub 2020 Apr 21. Nat Rev Genet. 2020. PMID: 32317787 Free PMC article. Review.