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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. 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.
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, Bauer NJC, Berendschot TTJM, Vermeltfoort P, Bok LA, van Eeghen AM, Houben ML, van Amelsvoort TAMJ, Boot E, van Egmond-Ebbeling MB. von Scheibler ENMM, et al. Among authors: boot e. Am J Med Genet A. 2022 Feb;188(2):569-578. doi: 10.1002/ajmg.a.62556. Epub 2021 Nov 12. Am J Med Genet A. 2022. PMID: 34773366 Free PMC article.
Post-traumatic stress in adults with 22q11.2 deletion syndrome.
von Scheibler ENMM, van Amelsvoort TAMJ, Vingerhoets C, van Eeghen AM, Boot E. von Scheibler ENMM, et al. Among authors: boot e. BJPsych Open. 2022 Jul 7;8(4):e126. doi: 10.1192/bjo.2022.525. BJPsych Open. 2022. PMID: 35795982 Free PMC article.
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
von Scheibler ENMM, van Eeghen AM, de Koning TJ, Kuijf ML, Zinkstok JR, Müller AR, van Amelsvoort TAMJ, Boot E. von Scheibler ENMM, et al. Among authors: boot e. Mov Disord Clin Pract. 2022 Oct 31;10(1):17-31. doi: 10.1002/mdc3.13577. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699000 Free PMC article. Review.
130 results