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Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
Hum Mol Genet. 2016 Sep 1;25(17):3754-3767. doi: 10.1093/hmg/ddw221. Epub 2016 Jul 19.
Hum Mol Genet. 2016.
PMID: 27436579
Free PMC article.
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.
Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166.
Hum Mol Genet. 2019.
PMID: 31884517
Free PMC article.
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Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.
Alkalay AA, Guo T, Montagna C, Digilio MC, Dallapiccola B, Marino B, Morrow B.
Alkalay AA, et al.
Am J Med Genet A. 2011 Mar;155A(3):548-54. doi: 10.1002/ajmg.a.33861. Epub 2011 Feb 18.
Am J Med Genet A. 2011.
PMID: 21337693
Free PMC article.
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