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Page 1
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. Among authors: emanuel b. 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.
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium. Guo T, et al. Among authors: emanuel b. Hum Mutat. 2011 Nov;32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16. Hum Mutat. 2011. PMID: 21796729 Free PMC article.
Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis.
Goldenberg PC, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur RC, Gur RE. Goldenberg PC, et al. Among authors: emanuel b. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):87-93. doi: 10.1002/ajmg.b.32005. Epub 2011 Dec 13. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22170773 Free PMC article.
Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.
Weisman O, Guri Y, Gur RE, McDonald-McGinn DM, Calkins ME, Tang SX, Emanuel B, Zackai EH, Eliez S, Schneider M, Schaer M, Kates WR, Antshel KM, Fremont W, Shashi V, Hooper SR, Armando M, Vicari S, Pontillo M, Kushan L, Jalbrzikowski M, Bearden CE, Cubells JF, Ousley OY, Walker EF, Simon TJ, Stoddard J, Niendam TA, van den Bree MBM, Gothelf D; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Weisman O, et al. Among authors: emanuel b. Schizophr Bull. 2017 Sep 1;43(5):1079-1089. doi: 10.1093/schbul/sbx005. Schizophr Bull. 2017. PMID: 28204757 Free PMC article.
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Johnston HR, Chopra P, Wingo TS, Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome; Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ. Johnston HR, et al. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1923-E1932. doi: 10.1073/pnas.1618065114. Epub 2017 Feb 21. Proc Natl Acad Sci U S A. 2017. PMID: 28223510 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.
Retraction Notice to: 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. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. Am J Hum Genet. 2018. PMID: 30193139 Free PMC article. No abstract available.
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.
Villalón-Reina JE, Martínez K, Qu X, Ching CRK, Nir TM, Kothapalli D, Corbin C, Sun D, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, 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, Emanuel B, McDonald-McGinn DM, Vorstman JAS, Fiksinski AM, Koops S, Ruparel K, Roalf D, Gur RE, Eric Schmitt J, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Doherty JL, Cunningham AC, van den Bree M, Linden DEJ, Owen M, Moss H, Kelly S, Donohoe G, Murphy KC, Arango C, Jahanshad N, Thompson PM, Bearden CE. Villalón-Reina JE, et al. Among authors: emanuel b. Mol Psychiatry. 2020 Nov;25(11):2818-2831. doi: 10.1038/s41380-019-0450-0. Epub 2019 Jul 29. Mol Psychiatry. 2020. PMID: 31358905 Free PMC article.
462 results