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Year Number of Results
2004 2
2005 1
2007 1
2008 1
2009 2
2010 1
2011 3
2012 6
2013 1
2014 4
2015 3
2016 2
2017 4
2018 3
2019 5
2020 7
2021 8
2022 4
2023 4
2024 6

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Page 1
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: repetto gm. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Boot E, et al. Among authors: repetto gm. Genet Med. 2023 Mar;25(3):100344. doi: 10.1016/j.gim.2022.11.012. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729052 Free article.
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM, Dazzan P, de Zubicaray GI, Djurovic S, Doherty JL, Donohoe G, Draganski B, Durdle CA, Ehrlich S, Emanuel BS, Espeseth T, Fisher SE, Ge T, Glahn DC, Grabe HJ, Gur RE, Gutman BA, Haavik J, Håberg AK, Hansen LA, Hashimoto R, Hibar DP, Holmes AJ, Hottenga JJ, Hulshoff Pol HE, Jalbrzikowski M, Knowles EEM, Kushan L, Linden DEJ, Liu J, Lundervold AJ, Martin-Brevet S, Martínez K, Mather KA, Mathias SR, McDonald-McGinn DM, McRae AF, Medland SE, Moberget T, Modenato C, Monereo Sánchez J, Moreau CA, Mühleisen TW, Paus T, Pausova Z, Prieto C, Ragothaman A, Reinbold CS, Reis Marques T, Repetto GM, Reymond A, Roalf DR, Rodriguez-Herreros B, Rucker JJ, Sachdev PS, Schmitt JE, Schofield PR, Silva AI, Stefansson H, Stein DJ, Tamnes CK, Tordesillas-Gutiérrez D, Ulfarsson MO, Vajdi A, van 't Ent D, van den Bree MBM, Vassos E, Vázquez-Bourgon J, Vila-Rodriguez F, Walters GB, Wen W, Westlye LT… See abstract for full author list ➔ Sønderby IE, et al. Among authors: repetto gm. Hum Brain Mapp. 2022 Jan;43(1):300-328. doi: 10.1002/hbm.25354. Epub 2021 Feb 21. Hum Brain Mapp. 2022. PMID: 33615640 Free PMC article. Review.
Pathogenesis of preeclampsia: the genetic component.
Valenzuela FJ, Pérez-Sepúlveda A, Torres MJ, Correa P, Repetto GM, Illanes SE. Valenzuela FJ, et al. Among authors: repetto gm. J Pregnancy. 2012;2012:632732. doi: 10.1155/2012/632732. Epub 2011 Dec 1. J Pregnancy. 2012. PMID: 22175024 Free PMC article. Review.
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
D'Angelo CS, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Mengchun G, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Thomas Y, Baynam G. D'Angelo CS, et al. Among authors: repetto gm. Front Pediatr. 2020 Dec 14;8:579924. doi: 10.3389/fped.2020.579924. eCollection 2020. Front Pediatr. 2020. PMID: 33381478 Free PMC article. Review.
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: repetto gm. 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.
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. Among authors: repetto gm. Hum Brain Mapp. 2024 Jan;45(1):e26553. doi: 10.1002/hbm.26553. Hum Brain Mapp. 2024. PMID: 38224541 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: repetto gm. 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.
58 results